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A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3169747957

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

About this item

Full title

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

Publisher

United States: Oxford University Press

Journal title

G3 : genes - genomes - genetics, 2014-05, Vol.4 (5), p.823-828

Language

English

Formats

Publication information

Publisher

United States: Oxford University Press

More information

Scope and Contents

Contents

Abstract
Congenital cataracts are a significant cause of visual impairment or blindness in children. One-third of cases estimated to have a genetic cause. We carried out gene analysis and bioinformatics analysis to map the locus and to identify the underlying genetic defect in a 12-member, four-generation Chinese family affected with bilateral c...

Alternative Titles

Full title

A Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_3169747957

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3169747957

Other Identifiers

ISSN

2160-1836

E-ISSN

2160-1836

DOI

10.1534/g3.113.009860

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