Tomas Freiberger

Tomas Freiberger

UNVERIFIED PROFILE

Are you Tomas Freiberger?   Register this Author

Register author
Tomas Freiberger

Tomas Freiberger

Publications by authors named "Tomas Freiberger"

Are you Tomas Freiberger?   Register this Author

81Publications

1652Reads

6Profile Views

Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.

J Mol Microbiol Biotechnol 2017 20;27(6):350-355. Epub 2017 Dec 20.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000484524DOI Listing
June 2019

Impact of acceptor splice site NAGTAG motif on exon recognition.

Mol Biol Rep 2019 Jun 6;46(3):2877-2884. Epub 2019 Mar 6.

Centre for Cardiovascular Surgery and Transplantation, Pekařská 53, 656 91, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11033-019-04734-6DOI Listing
June 2019

Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Complex.

J Clin Microbiol 2019 May 26;57(5). Epub 2019 Apr 26.

Molecular and Genetic Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/JCM.00135-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498017PMC
May 2019

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Mol Immunol 2019 03 24;107:91-96. Epub 2019 Jan 24.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.molimm.2019.01.007DOI Listing
March 2019

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene.

J Clin Lipidol 2019 Feb 16. Epub 2019 Feb 16.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Central European Institute of Technology and Medical Faculty, Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacl.2019.02.003DOI Listing
February 2019

Human native endocarditis caused by Streptococcus canis-a case report.

APMIS 2019 Jan;127(1):41-44

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apm.12905DOI Listing
January 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 Dec 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 2018

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Atherosclerosis 2018 Oct;277:234-255

Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.051DOI Listing
October 2018

Real-life LDL-C treatment goals achievement in patients with heterozygous familial hypercholesterolemia in the Czech Republic and Slovakia: Results of the PLANET registry.

Atherosclerosis 2018 Oct;277:355-361

Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91 Brno, Czech Republic; Ceitec and Medical Faculty of Masaryk University, Zerotinovo nam. 617/9, 601 77 Brno, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00219150183125
Publisher Site
http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.008DOI Listing
October 2018

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy.

J Clin Immunol 2018 Oct 2;38(7):810-815. Epub 2018 Oct 2.

Department of Clinical Immunology and Allergology, St. Anne's University Hospital in Brno, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0553-4DOI Listing
October 2018

[PCR diagnosis of infectious diseases].

Vnitr Lek Fall 2017;63(7-8):472-474

View Article

Download full-text PDF

Source
February 2018

Biofilm formation, antibiotic susceptibility and RAPD genotypes in Pseudomonas aeruginosa clinical strains isolated from single centre intensive care unit patients.

Folia Microbiol (Praha) 2017 Nov 1;62(6):531-538. Epub 2017 Apr 1.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Pekařská 53, 656 91, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12223-017-0526-7DOI Listing
November 2017

First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.

BMC Infect Dis 2017 08 14;17(1):563. Epub 2017 Aug 14.

Molecular and Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12879-017-2654-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557263PMC
August 2017

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Clin Immunol 2017 07 27;180:33-44. Epub 2017 Mar 27.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Institute of Clinical Immunology and Allergology, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2017.03.010DOI Listing
July 2017

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Int J Mol Sci 2017 Jul 31;18(8). Epub 2017 Jul 31.

Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18081668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578058PMC
July 2017

[Severe familial hypercholesterolemia treatment].

Vnitr Lek Fall 2016;62(11):895-901

View Article

Download full-text PDF

Source
June 2017

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

J Mol Med (Berl) 2017 03 12;95(3):299-309. Epub 2016 Nov 12.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00109-016-1484-2DOI Listing
March 2017

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

Atheroscler Suppl 2016 Dec 7;22:1-32. Epub 2016 Dec 7.

Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2016.10.001DOI Listing
December 2016

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Atherosclerosis 2016 07 27;250:9-14. Epub 2016 Apr 27.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Masaryk University, Brno, Czech Republic; CEITEC - Central European Institute of Technology, Masaryk University, Brno, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2016.04.022DOI Listing
July 2016

Evaluation of Fluorescent Capillary Electrophoresis for Rapid Identification of Candida Fungal Infections.

J Clin Microbiol 2016 05 2;54(5):1295-303. Epub 2016 Mar 2.

Centre for Cardiovascular Surgery and Transplantation Brno, Genetics Laboratory, Brno, Czech Republic Molecular Immunology and Microbiology, Central European Institute of Technology, Masaryk University Brno, Brno, Czech Republic

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/JCM.00118-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844707PMC
May 2016

Correlations of the changes in bioptic findings with echocardiographic, clinical and laboratory parameters in patients with inflammatory cardiomyopathy.

Heart Vessels 2016 Mar 25;31(3):416-26. Epub 2014 Dec 25.

Department of Cardiovascular Diseases, St. Anne's University Hospital, International Clinical Research Center, Pekarska 53, 65690, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00380-014-0618-0DOI Listing
March 2016

Rapid identification of medically important Candida isolates using high resolution melting analysis.

PLoS One 2015 17;10(2):e0116940. Epub 2015 Feb 17.

Centre for Cardiovascular Surgery and Transplantation Brno, Brno, Czech Republic; International Clinical Research Centre, St. Anne's University Hospital Brno, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116940PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331273PMC
January 2016

The variable clinical course of peripartum cardiomyopathy.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 31;158(1):92-7. Epub 2012 Oct 31.

International Clinical Research Center - 1st Internal Cardio-Angiological Clinic, St. Anne's University Hospital Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5507/bp.2012.080DOI Listing
April 2015

Association between surgical indications, operative risk, and clinical outcome in infective endocarditis: a prospective study from the International Collaboration on Endocarditis.

Circulation 2015 Jan 5;131(2):131-40. Epub 2014 Dec 5.

From Duke University Medical Center, Durham, NC (V.H.C., L.P.P., A.W.); Barwon Health and Deakin University, Geelong, Australia (E.A.); Hospital Louis Pradel, Lyon-Bron, France (F.D.); Center for Cardiovascular Surgery and Transplantation, Brno, and Central European Institute of Technology, Masaryk University, Brno, Czech Republic (T.F.); Instituto Nacional de Cardiologia, and Unigranrio, Rio de Janeiro, Brazil (C.L.); Infectious Diseases Service, Hospital Clinic-August Pi i Sunyer Biomedical Research Institute, University of Barcelona, Barcelona, Spain (J.M.M., J.M.P.); OhioHealth Heart and Vascular Physicians, Columbus, OH (D.W.M.); Hadassah-Hebrew University Medical Center, Jerusalem, Israel (J.S.); University Hospital, Amiens, and INSERM U-1088, University of Picardie, Amiens, France (C.T.); Internal Medicine, University of Naples SUN, Monaldi Hospital, Naples, Italy (E.D.-M.); Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain (N.F.-H.); Instituto Cardiovascular de Buenos Aires, Buenos Aires, Argentina (F.N.); Cairo University Hospital, Cairo, Egypt (H.R.); University Hospital for Infectious Diseases, Zagreb, Croatia (V.K.); Attikon University General Hospital, Athens, Greece (E.G.); and Mater Misericordiae University Hospital, Dublin, Ireland (J.P.H., M.M.H.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.114.012461DOI Listing
January 2015

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

PLoS One 2014 21;9(2):e89570. Epub 2014 Feb 21.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic ; Institute of Clinical Immunology and Allergology, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089570PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931810PMC
October 2014

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 Sep 22;158(3):470-3. Epub 2013 Mar 22.

Department of Paediatrics, Centre for diagnosis and treatment of primary immunodeficiencies, Jessenius Faculty of Medicine, Commenius University in Bratislava, Martin, Slovakia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5507/bp.2013.011DOI Listing
September 2014

Association between low levels of Mannan-binding lectin and markers of autoimmune thyroid disease in pregnancy.

PLoS One 2013 10;8(12):e81755. Epub 2013 Dec 10.

Third Department of Medicine, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081755PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858249PMC
September 2014

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay.

Genes Chromosomes Cancer 2014 Sep 12;53(9):798-801. Epub 2014 May 12.

Department of Molecular Immunology and Microbiology, Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/gcc.22186
Publisher Site
http://dx.doi.org/10.1002/gcc.22186DOI Listing
September 2014

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Am J Med Genet A 2014 Jun 25;164A(6):1559-64. Epub 2014 Mar 25.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36480DOI Listing
June 2014

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

J Clin Immunol 2014 Feb 30;34(2):142-5. Epub 2014 Jan 30.

Paediatrics Department, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10875-013-9986
Web Search
http://link.springer.com/10.1007/s10875-013-9986-y
Publisher Site
http://dx.doi.org/10.1007/s10875-013-9986-yDOI Listing
February 2014

Cardio-ankle vascular index in subjects with dyslipidaemia and other cardiovascular risk factors.

J Atheroscler Thromb 2013 4;20(5):443-51. Epub 2013 Mar 4.

2nd Clinic of Internal Medicine, Masaryk University of Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5551/jat.15420DOI Listing
December 2013

Cardio-ankle vascular index in heterozygous familial hypercholesterolemia.

J Atheroscler Thromb 2012 12;19(5):453-61. Epub 2012 Jan 12.

2nd Clinic of Internal Medicine, Masaryk University of Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5551/jat.9639DOI Listing
September 2012

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Atherosclerosis 2012 Aug 23;223(2):401-8. Epub 2012 May 23.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014DOI Listing
August 2012

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Pediatrics 2012 Feb 23;129(2):e523-8. Epub 2012 Jan 23.

Department of Pediatric Hematology and Oncology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2011-0870DOI Listing
February 2012

Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.

Clin Chim Acta 2011 May 21;412(11-12):920-4. Epub 2011 Jan 21.

Department of Clinical Biochemistry, St. Anne's University Hospital and 2nd Clinic of Internal Medicine, Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2011.01.017DOI Listing
May 2011

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Atherosclerosis 2011 May 21;216(1):139-45. Epub 2011 Jan 21.

University Hospital Brno, Centre of Molecular Biology and Gene Therapy, Černopolní 9, CZ-62500 Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023DOI Listing
May 2011

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Mol Immunol 2011 Feb 24;48(5):788-92. Epub 2010 Dec 24.

Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt. 98, 4032 Debrecen, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.molimm.2010.11.013DOI Listing
February 2011

Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.

Interact Cardiovasc Thorac Surg 2010 Dec 16;11(6):758-62. Epub 2010 Sep 16.

Department of Cardiac Anaesthesia, Centre for Cardiovascular and Transplant Surgery (CKTCH), St. Anne's University Hospital, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1510/icvts.2010.243600DOI Listing
December 2010

Differentiation of Staphylococcus spp. by high-resolution melting analysis.

Can J Microbiol 2010 Dec;56(12):1040-9

Centre for Cardiovascular Surgery and Transplantations, Pekarska 53, 656 91 Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1139/W10-091DOI Listing
December 2010

Monitoring of CD38high expression in peripheral blood CD8+ lymphocytes in patients after kidney transplantation as a marker of cytomegalovirus infection.

Transpl Immunol 2010 Oct 14;24(1):50-6. Epub 2010 Oct 14.

Department of Clinical Immunology and Allergology, St. Anne's Faculty Hospital, Masaryk University, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trim.2010.10.002DOI Listing
October 2010

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

BMC Med Genet 2010 Jul 27;11:115. Epub 2010 Jul 27.

University Hospital Brno, Centre of Molecular Biology and Gene Therapy, Cernopolní 9, CZ-62500 Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-11-115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923121PMC
July 2010

Detection of Cardiobacterium valvarum in a patient with aortic valve infective endocarditis by broad-range PCR.

J Med Microbiol 2010 Feb 1;59(Pt 2):231-4. Epub 2009 Oct 1.

Centre for Cardiovascular Surgery and Transplantation Brno, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1099/jmm.0.012948-0DOI Listing
February 2010

Genotypic versus phenotypic methods in the detection of Listeria monocytogenes prosthetic joint infection.

J Med Microbiol 2009 Jun;58(Pt 6):829-31

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1099/jmm.0.006106-0DOI Listing
June 2009

[Aortic and mitral valve infective endocarditis caused by Tropheryma whipplei and with no gastrointestinal manifestations of Whipple's disease].

Klin Mikrobiol Infekc Lek 2007 Oct;13(5):213-6

Department of Cardio Surgery, University Hospital Ostrava, 17 listopadu 1790, Ostrava-Poruba, Czech Republic.

View Article

Download full-text PDF

Source
October 2007

[A sepsis caused by Capnocytophaga canimorsus: diagnostic and therapeutic options].

Klin Mikrobiol Infekc Lek 2007 Jun;13(3):115-8

Department of Infectious Diseases, University Hospital, Brno, Czech Republic.

View Article

Download full-text PDF

Source
June 2007

Culture-negative infective endocarditis caused by Aerococcus urinae.

J Heart Valve Dis 2007 Mar;16(2):203-5

Centrefor Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

View Article

Download full-text PDF

Source
March 2007

Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.

J Immunol Methods 2004 Dec 11;295(1-2):139-47. Epub 2004 Nov 11.

Laboratory of Molecular Genetics, Centre for Cardiovascular Surgery and Transplantation, Výstavní 17/19, 603 00 Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002217590400373
Publisher Site
http://dx.doi.org/10.1016/j.jim.2004.10.007DOI Listing
December 2004

Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema.

Hum Immunol 2002 Jun;63(6):492-4

Department of Immunogenetics, Research Institute of Child Health, Brno, Czech Republic.

View Article

Download full-text PDF

Source
June 2002

Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.

Hum Mutat 2002 Apr;19(4):461

Department of Immunogenetics, Research Institute of Child Health, Brno, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9029DOI Listing
April 2002

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Hum Mutat 2002 Jan;19(1):80

Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Cernopolní 9, CZ-662 62.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.9000DOI Listing
January 2002