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A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract. METHODS: After obtaining informed consent, detailed ophthalmic examinations were performed and genomic DNAs were obtained from eleven family members in a three-generation Chines...

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Hlavní autoři: Wang, Li, Chen, Xueli, Lu, Yi, Wu, Jihong, Yang, Boqi, Sun, Xinghuai
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3081795/
https://ncbi.nlm.nih.gov/pubmed/21527994
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