Sonia Clavero

Sonia Clavero

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Sonia Clavero

Sonia Clavero

Publications by authors named "Sonia Clavero"

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Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.

Mol Med 2011 25;17(7-8):748-56. Epub 2011 Feb 25.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.2119/molmed.2010.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146604PMC
December 2011

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.

Mol Med 2010 Sep-Oct;16(9-10):381-8. Epub 2010 May 12.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.2119/molmed.2010.00038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935953PMC
December 2010

New splicing mutations in propionic acidemia.

J Hum Genet 2006 19;51(11):992-997. Epub 2006 Oct 19.

Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, 28049, Madrid, Spain.

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http://dx.doi.org/10.1007/s10038-006-0068-3DOI Listing
January 2007

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

Hum Genet 2004 Aug 2;115(3):239-47. Epub 2004 Jul 2.

Dpto. Biología Molecular, Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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http://link.springer.com/10.1007/s00439-004-1147-1
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http://dx.doi.org/10.1007/s00439-004-1147-1DOI Listing
August 2004

Functional characterization of PCCA mutations causing propionic acidemia.

Biochim Biophys Acta 2002 Nov;1588(2):119-25

Dpto. Biología Molecular, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid, Spain.

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http://dx.doi.org/10.1016/s0925-4439(02)00155-2DOI Listing
November 2002