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Article

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.

BMC medical genetics - 15 Aug 2014

Xia Xin-Yi, Li Na, Cao Xiang, Wu Qiu-Yue, Li Tian-Fu, Zhang Cui, Li Wei-Wei, Cui Ying-Xia, Li Xiao-Jun, Xue Chun-Yan

Abstract excerpt

BACKGROUND: Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese famil...

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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: 25124159
DOI: 10.1186/s12881-014-0097-2
PMCID: PMC4236509

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25124159-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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