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A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with Wolfram syndrome (WFS). It had been shown that these families did not have mutations in the WFS1 gene (WFS1) but were mapped to the WFS2 locus at...

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Detalhes bibliográficos
Main Authors: Amr, Sami , Heisey, Cindy , Zhang, Min , Xia, Xia-Juan , Shows, Kathryn H. , Ajlouni, Kamel , Pandya, Arti , Satin, Leslie S. , El-Shanti, Hatem , Shiang, Rita 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2227919/
https://ncbi.nlm.nih.gov/pubmed/17846994
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