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Article

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Molecular vision - 1 Jan 2011

Xiao Xueshan, Li Wei, Wang Panfeng, Li Lin, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract. METHODS: Genomic DNA and clinical data were collected from the family. Candidate gene sequencing and genome-wide linkage analysis were used to disclose the molecular basis responsible for cerulean cataract in the family. RESULTS: Initially, sequencing analysis of the three genes (beta-B2-crystallin...

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Topics

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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: 21850180
PMCID: PMC3154127

Genes

MIP
MAF
CRYBB2
CRYGD

Variants

Provenance

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