A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family

PURPOSE: To identify the genetic defect in a three-generation Chinese family with congenital cataracts. METHODS: The phenotype of a three-generation Chinese family with congenital cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencin...

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Detalles Bibliográficos
Autores principales: Su, Dongmei, Guo, Yuanyuan, Li, Qian, Guan, Lina, 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/PMC3534140/
https://www.ncbi.nlm.nih.gov/pubmed/23288997

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534140/
https://www.ncbi.nlm.nih.gov/pubmed/23288997

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