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Article

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Molecular vision - 1 Jan 2009

Zhang Lu, Fu Songbin, Ou Yangshan, Zhao Tingting, Su Yunjuan, Liu Ping

Abstract excerpt

PURPOSE: To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. METHODS: We investigated a four-generation Chinese family with six members affected with nuclear cataracts and microcornea. The family resides in a relatively isolated region of northern China. Genomic DNA was isolated from blood leucocytes,...

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Source

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Identifiers

PMID: 19204787
PMCID: PMC2635849

Genes

CRYGC
CRYGA
CRYGD

Variants

Provenance

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