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Article

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Molecular vision - 8 Jan 2011

Wang Kai Jie, Li Sha Sha, Yun Bo, Ma Wen Xian, Jiang Tian Ge, Zhu Si Quan

Abstract excerpt

PURPOSE: To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. METHODS: A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects...

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Identifiers

PMID: 21245956
PMCID: PMC3021572

Genes

MIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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