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Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1

PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts. METHODS: Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted f...

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Detalles Bibliográficos
Autores principales:	Yu, Yibo, Li, Jinyu, Xu, Jia, Wang, Qiwei, Yu, Yinhui, Yao, Ke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425576/ https://www.ncbi.nlm.nih.gov/pubmed/22919269

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