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Article

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

Molecular vision - 25 Mar 2010

Wang Wei, Jiang Jin, Zhu Yanan, Li Jinyu, Jin Chongfei, Shentu Xingchao, Yao Ke

Abstract excerpt

PURPOSE: To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts. METHODS: A detailed family history and clinical data were recorded. Mutation screening was performed in the nuclear cataract-related gene by bidirectional sequencing of the amplified products. The mutation was verified by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Two...

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Identifiers

PMID: 20361015
PMCID: PMC2846850

Genes

MIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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