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Article

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

Molecular vision - 9 Jul 2008

Yao Ke, Jin Chongfei, Zhu Ning, Wang Wei, Wu Renyi, Jiang Jin, Shentu Xingchao

Abstract excerpt

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 leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18618005
PMCID: PMC2447816

Genes

CRYGC
CRYGD

Variants

Provenance

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