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Article

A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.

Molecular vision - 1 Jan 2012

Zhao Chan, Wang Fang, Zhang Yanqin, Wen Yubing, Su Ying, Zhang Chengfen, Sui Ruifang, Xu Fei, Ding Jie, Dong Fangtian

Abstract excerpt

PURPOSE: To describe an unusual ocular phenotype in a Chinese female patient with X-linked Alport syndrome (XLAS), and to characterize the type IV collagen alpha 5 (COL4A5) gene mutation in the patient and her son. METHODS: Detailed ophthalmologic examinations and optical coherence tomography were performed in the patient and her family members. For gene analysis of COL4A5, the entire coding region of COL4A5 mRNA...

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PMID: 22919268
PMCID: PMC3425574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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