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

PURPOSE: To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS: A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes s...

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Detalles Bibliográficos
Autores principales: Yang, Zhenfei, Li, Qian, Ma, Zicheng, Guo, Yuanyuan, Zhu, Siquan, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156781/
https://www.ncbi.nlm.nih.gov/pubmed/21850182

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156781/
https://www.ncbi.nlm.nih.gov/pubmed/21850182

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