A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract

PURPOSE: To identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Twenty-two members of a three-generation pedigree were recruited, clinical examinations were performed, and genomic DNA was extracted from peripheral blood leukocytes....

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Detalles Bibliográficos
Autores principales: Yang, Juhua, Zhu, Yihua, Gu, Feng, He, Xiang, Cao, Zongfu, Li, Xuexi, Tong, Yi, Ma, Xu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324115/
https://www.ncbi.nlm.nih.gov/pubmed/18432316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324115/
https://www.ncbi.nlm.nih.gov/pubmed/18432316

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