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Article

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

Molecular vision - 1 Jan 2011

Yang Zhenfei, Li Qian, Ma Zicheng, Guo Yuanyuan, Zhu Siquan, Ma Xu

Abstract excerpt

PURPOSE: To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS: A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. RESULTS: The congenital cataract phenotype of...

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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: 21850182
PMCID: PMC3156781

Genes

CRYBA1

Provenance

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