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A missense mutation in CRYBA4 associated with congenital cataract and microcornea

PURPOSE: To identify mutations in a Chinese family with congenital cataract and microcornea. METHODS: Detailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals. A...

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Detalles Bibliográficos
Autores principales: Zhou, Guangkai, Zhou, Nan, Hu, Shanshan, Zhao, Liming, Zhang, Chunmei, Qi, Yanhua
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890555/
https://www.ncbi.nlm.nih.gov/pubmed/20577656