Anne M Bowcock

Anne M Bowcock

UNVERIFIED PROFILE

Are you Anne M Bowcock?   Register this Author

Register author
Anne M Bowcock

Anne M Bowcock

Publications by authors named "Anne M Bowcock"

Are you Anne M Bowcock?   Register this Author

84Publications

1631Reads

8Profile Views

Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity.

Exp Mol Pathol 2019 Oct 16;110:104286. Epub 2019 Jul 16.

Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Departments of Dermatology, Genetics & Genome Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yexmp.2019.104286DOI Listing
October 2019

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

J Am Acad Dermatol 2018 Sep 1;79(3):487-494. Epub 2018 Mar 1.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01909622183031
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2018.02.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098739PMC
September 2018

Punctuated evolution of canonical genomic aberrations in uveal melanoma.

Nat Commun 2018 01 9;9(1):116. Epub 2018 Jan 9.

Bascom Palmer Eye Institute, Sylvester Comprehensive Cancer Center and Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, Florida, 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-017-02428-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760704PMC
January 2018

Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in Class 1 and Class 2 uveal melanomas.

Oncotarget 2016 Sep;7(37):59209-59219

Bascom Palmer Eye Institute, Sylvester Comprehensive Cancer Center and Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/oncotarget.10962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312306PMC
September 2016

Driver Mutations in Uveal Melanoma: Associations With Gene Expression Profile and Patient Outcomes.

JAMA Ophthalmol 2016 07;134(7):728-33

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida2Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida3Interdisciplinary Stem Cell Institute, University of Miami Mill.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2016.0903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966162PMC
July 2016

The immunogenetics of Psoriasis: A comprehensive review.

J Autoimmun 2015 Nov 26;64:66-73. Epub 2015 Jul 26.

National Heart and Lung Institute, Imperial College, London SW3 6LY, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaut.2015.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628849PMC
November 2015

Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes.

Am J Hum Genet 2014 Aug 31;95(2):162-72. Epub 2014 Jul 31.

Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, University of Manchester, Manchester M13 9PT, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129407PMC
August 2014

Invited review DNA copy number changes as diagnostic tools for lung cancer.

Authors:
Anne M Bowcock

Thorax 2014 May 4;69(5):495-6. Epub 2013 Nov 4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/thoraxjnl-2013-204681DOI Listing
May 2014

Deletion of the activating NKG2C receptor and a functional polymorphism in its ligand HLA-E in psoriasis susceptibility.

Exp Dermatol 2013 Oct;22(10):679-81

Department of Dermatology, University of California San Francisco, San Francisco, CA, USA; Department of Dermatology, Guang'anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/exd.12233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813441PMC
October 2013

BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma.

BMC Cancer 2013 Aug 5;13:371. Epub 2013 Aug 5.

Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St, Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2407-13-371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846494PMC
August 2013

Association of cardiovascular and metabolic disease genes with psoriasis.

J Invest Dermatol 2013 Mar 29;133(3):836-839. Epub 2012 Nov 29.

Department of Dermatology, University of California, San Francisco, San Francisco, California, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X153614
Publisher Site
http://dx.doi.org/10.1038/jid.2012.366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570714PMC
March 2013

Noncanonical microRNAs and endogenous siRNAs in normal and psoriatic human skin.

Hum Mol Genet 2013 Feb 21;22(4):737-48. Epub 2012 Nov 21.

Department of Computer Science and Engineering, Washington University, St Louis, MO 63130, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554200PMC
February 2013

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

Nat Genet 2013 Feb 13;45(2):133-5. Epub 2013 Jan 13.

Department of Ophthalmology & Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789378PMC
February 2013

A subset of methylated CpG sites differentiate psoriatic from normal skin.

J Invest Dermatol 2012 Mar 10;132(3 Pt 1):583-92. Epub 2011 Nov 10.

Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S0022202X1535640
Publisher Site
http://dx.doi.org/10.1038/jid.2011.348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568942PMC
March 2012

Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma.

Clin Cancer Res 2012 Jan 28;18(2):408-16. Epub 2011 Oct 28.

Departments of Ophthalmology & Visual Sciences, Otolaryngology, and Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1078-0432.CCR-11-0946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261307PMC
January 2012

Targeting skin: vitiligo and autoimmunity.

J Invest Dermatol 2012 Jan;132(1):13-5

Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2011.353DOI Listing
January 2012

A genetic risk score combining ten psoriasis risk loci improves disease prediction.

PLoS One 2011 Apr 29;6(4):e19454. Epub 2011 Apr 29.

Department of Dermatology, University of California San Francisco, San Francisco, California, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0019454PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084857PMC
April 2011

Frequent mutation of BAP1 in metastasizing uveal melanomas.

Science 2010 Dec 4;330(6009):1410-3. Epub 2010 Nov 4.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1194472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087380PMC
December 2010

Genome-wide association studies and infectious disease.

Authors:
Anne M Bowcock

Crit Rev Immunol 2010 ;30(3):305-9

Division of Human Genetics, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
October 2010

Psoriasis genetics: breaking the barrier.

Trends Genet 2010 Sep 6;26(9):415-23. Epub 2010 Aug 6.

Division of Human Genetics, Department of Genetics, Washington University School of Medicine, 4559 Scott Avenue, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tig.2010.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957827PMC
September 2010

Primary ciliary dyskinesia in Amish communities.

J Pediatr 2010 Jun 29;156(6):1023-1025. Epub 2010 Mar 29.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2010.01.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875274PMC
June 2010

Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis.

J Allergy Clin Immunol 2009 Dec;124(6):1235-1244.e58

Laboratory for Investigative Dermatology, Rockefeller University, New York, NY 10065, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2009.09.031DOI Listing
December 2009

Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.

Exp Dermatol 2009 May 6;18(5):485-7. Epub 2009 Mar 6.

Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1600-0625.2008.00807.xDOI Listing
May 2009

Psoriasis bench to bedside: genetics meets immunology.

Arch Dermatol 2009 Apr;145(4):462-4

University of Michigan, Department of Dermatology, 3312 CCGC, Box 0932, Ann Arbor, MI 48109-0932, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archdermatol.2009.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739283PMC
April 2009

New insights into the pathogenesis and genetics of psoriatic arthritis.

Nat Clin Pract Rheumatol 2009 Feb;5(2):83-91

Laboratory of Investigative Dermatology, The Rockefeller University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncprheum0987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790861PMC
February 2009

Montagna symposium 2008: the biologic basis of psoriasis.

J Invest Dermatol 2009 Feb;129(2):259-60

[1] Department of Dermatology, Oregon Health & Sci University, Portland, Oregon, USA [2] Department of Mol. Microbiology & Immunology, Oregon Health & Sci University, Oregon, USA [3] Dermatology, Veterans Affairs Medical Center, Portland, Oregon, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2008.402DOI Listing
February 2009

Oncogenic mutations in GNAQ occur early in uveal melanoma.

Invest Ophthalmol Vis Sci 2008 Dec 21;49(12):5230-4. Epub 2008 Aug 21.

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.08-2145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2634606PMC
December 2008

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Am J Hum Genet 2008 Nov 23;83(5):616-22. Epub 2008 Oct 23.

Department of Orthopedic Surgery, Washington University School of Medicine, St Louis, MO 63119, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2008.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668044PMC
November 2008

Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.

Clin Orthop Relat Res 2007 Sep;462:27-31

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BLO.0b013e31805d8649DOI Listing
September 2007

Genomics: guilt by association.

Authors:
Anne M Bowcock

Nature 2007 Jun;447(7145):645-6

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/447645aDOI Listing
June 2007

Pathogenesis and therapy of psoriasis.

Nature 2007 Feb;445(7130):866-73

Laboratory for Investigative Dermatology, The Rockefeller University, 1230 York Avenue, Box 178, New York, New York 10021, USA.

View Article

Download full-text PDF

Source
http://m-learning.zju.edu.cn/G2S/eWebEditor/uploadfile/20140
Web Search
http://www.nature.com/doifinder/10.1038/nature05663
Publisher Site
http://dx.doi.org/10.1038/nature05663DOI Listing
February 2007

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Am J Med Genet A 2007 Jan;143A(1):27-32

Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31563
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31563DOI Listing
January 2007

Understanding the pathogenesis of psoriasis, psoriatic arthritis, and autoimmunity via a fusion of molecular genetics and immunology.

Authors:
Anne M Bowcock

Immunol Res 2005 ;32(1-3):45-56

Division of Human Genetics, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1385/IR:32:1-3:045DOI Listing
August 2006

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.

Am J Med Genet A 2006 Aug;140(16):1744-8

Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31375DOI Listing
August 2006

Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis.

J Invest Dermatol 2006 Mar;126(3):603-6

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.jid.5700108DOI Listing
March 2006

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

J Orthop Res 2006 Mar;24(3):448-53

Department of Orthopedic Surgery, Washington University School of Medicine, One Child Place, Suite 45 Saint Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jor.20052DOI Listing
March 2006

The genetics of psoriasis and autoimmunity.

Authors:
Anne M Bowcock

Annu Rev Genomics Hum Genet 2005 ;6:93-122

Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev.genom.6.080604.162324DOI Listing
December 2005

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR.

Hum Genet 2005 Dec 19;118(3-4):466-76. Epub 2005 Oct 19.

Department of Genetics, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St. Louis, Missouri, 63110, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-005-0048-2
Publisher Site
http://dx.doi.org/10.1007/s00439-005-0048-2DOI Listing
December 2005

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation.

J Orthop Res 2005 Nov 11;23(6):1490-4. Epub 2005 Jul 11.

Department of Orthopedic Surgery, Washington University School of Medicine, One Children's Place, Suite 4S20, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.orthres.2005.04.011.1100230636DOI Listing
November 2005

Getting under the skin: the immunogenetics of psoriasis.

Nat Rev Immunol 2005 Sep;5(9):699-711

Department of Genetics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nri1689DOI Listing
September 2005

Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.

Hum Immunol 2005 Jul;66(7):836-41

Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, City Hospital, Belfast, Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.humimm.2005.04.005DOI Listing
July 2005

Direct genomic selection.

Nat Methods 2005 Jan;2(1):63-9

Department of Genetics, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nmeth0105-63DOI Listing
January 2005

A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

Eur J Hum Genet 2004 Sep;12(9):752-61

Laboratory of Statistical Genetics, Rockefeller University, Box 192, 1230 York Avenue, New York, NY 10021, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356564PMC
September 2004

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Hum Genet 2004 Jun 16;115(1):81-9. Epub 2004 Apr 16.

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-004-1121-yDOI Listing
June 2004

Psoriasis vulgaris: cutaneous lymphoid tissue supports T-cell activation and "Type 1" inflammatory gene expression.

Trends Immunol 2004 Jun;25(6):295-305

Department of Dermatology, Yonsei University College of Medicine, Yongdong Severance Hospital, 146-29 Dogok-Dong, Kangman-Ku, Seoul, South Korea.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S147149060400098
Publisher Site
http://dx.doi.org/10.1016/j.it.2004.03.006DOI Listing
June 2004

Psoriasis genetics: the way forward.

Authors:
Anne M Bowcock

J Invest Dermatol 2004 Jun;122(6):xv-xvii

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.0022-202X.2004.22627.xDOI Listing
June 2004

The genetics of psoriasis, psoriatic arthritis and atopic dermatitis.

Hum Mol Genet 2004 Apr;13 Spec No 1:R43-55

Department of Genetics, Pediatrics and Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddh094DOI Listing
April 2004

A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.

Nat Genet 2003 Dec 9;35(4):349-56. Epub 2003 Nov 9.

Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1268DOI Listing
December 2003

Genetics of psoriasis: the potential impact on new therapies.

J Am Acad Dermatol 2003 Aug;49(2 Suppl):S51-6

Department of Genetics, Pediatrics, and Medicine, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0190-9622(03)01135-6DOI Listing
August 2003

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

Diabetes Care 2003 May;26(5):1350-5

Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75390, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/diacare.26.5.1350DOI Listing
May 2003

Novel mechanisms of T-cell and dendritic cell activation revealed by profiling of psoriasis on the 63,100-element oligonucleotide array.

Physiol Genomics 2003 Mar 18;13(1):69-78. Epub 2003 Mar 18.

Department of Biostatistics, Harvard University, Boston 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/physiolgenomics.00157.2002DOI Listing
March 2003

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.

Hum Genet 2003 Jan 24;112(1):34-41. Epub 2002 Oct 24.

Departments of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0851-yDOI Listing
January 2003

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Nat Genet 2002 May 22;31(1):21-3. Epub 2002 Apr 22.

Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas 75390, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng880DOI Listing
May 2002

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

Am J Med 2002 May;112(7):549-55

Center for Human Nutrition and Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9052, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0002-9343(02)01070-7DOI Listing
May 2002