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A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family

PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHOD...

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Detaylı Bibliyografya
Asıl Yazarlar: Yang, Guoxing, Zhai, Xinling, Zhao, Jialiang
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Molecular Vision 2011
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115749/
https://ncbi.nlm.nih.gov/pubmed/21686330
Etiketler: Etiketle
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