A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family

PURPOSE: To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leuk...

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Detalles Bibliográficos
Autores principales: Yao, Ke, Jin, Chongfei, Zhu, Ning, Wang, Wei, Wu, Renyi, Jiang, Jin, Shentu, Xingchao
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2447816/
https://www.ncbi.nlm.nih.gov/pubmed/18618005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2447816/
https://www.ncbi.nlm.nih.gov/pubmed/18618005

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