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Article

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2011

Wang Kai Jie, Wang Bin Bin, Zhang Fengju, Zhao Yanyan, Ma Xu, Zhu Si Quan

Abstract excerpt

OBJECTIVE: To investigate the molecular genetic background in families with nuclear congenital cataract. METHODS: Family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was performed to analyze the cosegregation of the genotype with the disease phenotype. Effects of amino acid changes on the structure and function of protein were predicted by...

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Identifiers

PMID: 21402992
DOI: 10.1001/archophthalmol.2011.11

Genes

CRYBB2
CRYBB1

Variants

Provenance

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