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Article

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Scientific reports - 27 Apr 2017

Zhai Yi, Li Jinyu, Yu Wangshu, Zhu Sha, Yu Yinhui, Wu Menghan, Sun Guizhen, Gong Xiaohua, Yao Ke

Abstract excerpt

Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging in some cases, for congenital cataracts are clinically and genetically heterogeneous diseases. The aim of this study is to investigate the mutation spectrum and frequency of 54 cartaract-associated genes in 27 Chinese families with...

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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: 28450710
DOI: 10.1038/s41598-017-01182-9
PMCID: PMC5430819

Genes

BFSP1
CRYBA2
CRYBA4
CRYGS
EZR
HSF4
PAX6
VIM

Provenance

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