Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans

Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum lo...

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Bibliographische Detailangaben
Hauptverfasser: Berry, Vanita, Gregory-Evans, Cheryl, Emmett, Warren, Waseem, Naushin, Raby, Jacob, Prescott, DeQuincy, Moore, Anthony T, Bhattacharya, Shomi S
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831071/
https://ncbi.nlm.nih.gov/pubmed/23531866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.52
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