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A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

PURPOSE: To identify the genetic lesions for congenital coralliform cataract. METHODS: Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screene...

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Библиографические подробности
Главные авторы: Zhang, Li-Yun, Gong, Bo, Tong, Jian-Ping, Fan, Dorothy Shu-Ping, Chiang, Sylvia Wai-Yee, Lou, Dinghua, Lam, Dennis Shun-Chiu, Yam, Gary Hin-Fai, Pang, Chi-Pui
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722711/
https://ncbi.nlm.nih.gov/pubmed/19668596
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