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A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations

PURPOSE: To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts. METHODS: Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to id...

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Detalles Bibliográficos
Autores principales: Zhu, Yanan, Shentu, Xingchao, Wang, Wei, Li, Jinyu, Jin, Chongfei, Yao, Ke
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994768/
https://www.ncbi.nlm.nih.gov/pubmed/21139983