Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2

PURPOSE: To identify the causative genetic mutation among the known cataract candidate genes underlying the observed phenotype in a Basotho family, with congenital nuclear cataracts. METHODS: Because of the small family size, we used the functional candidate gene analysis approach. We screened a Bas...

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Detalles Bibliográficos
Autores principales: Mothobi, Maneo Emily, Guo, Shuren, Liu, Yuanyuan, Chen, Qiang, Yussuf, Ali Said, Zhu, Xinli, Fang, Zheng
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718852/
https://www.ncbi.nlm.nih.gov/pubmed/19649175

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