A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family

PURPOSE: The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS: The family history and clinical data were recorded. The patient...

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Detalles Bibliográficos
Autores principales: Yang, Zhenfei, Su, Dongmei, Li, Qian, Yang, Fan, Ma, Zicheng, Zhu, Siquan, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365137/
https://www.ncbi.nlm.nih.gov/pubmed/22665976

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