A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree

PURPOSE: To identify the mutant gene for autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. METHODS: The clinical data of patients from the family were recorded by slit-lamp photography. Genomic DNA samples from peripheral blood of the pedigree members were...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Gu, Zhensheng, Ji, Baohu, Wan, Chunling, He, Guang, Zhang, Juan, Zhang, Ming, Feng, Guoyin, He, Lin, Gao, Linghan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2010
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2817011/
https://ncbi.nlm.nih.gov/pubmed/20142846
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