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A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family

PURPOSE: To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripher...

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Autori principali: Chen, Qiang, Ma, Junjie, Yan, Ming, Mothobi, Maneo Emily, Liu, Yuanyuan, Zheng, Fang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2709425/
https://ncbi.nlm.nih.gov/pubmed/19597569
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