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Article

Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2004

Pan Xiaoxia, Yan Jingyin, Ren Hong, Zhang Wen, Shi Hao, Yu Haijin, Wang Chaohui, Hao Cuilan, Chen Xiaonong, Chen Nan

Abstract excerpt

BACKGROUND: Mutations in the COL4A5 gene, encoding the alpha 5 chain of type IV collagen, are responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with progressive hearing loss and ocular le...

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Identifiers

PMID: 14993485
DOI: 10.1093/ndt/gfh099

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14993485-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.PMID 14993485Read ↗

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Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.Semantic proximity Read ↗

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Novel mutations of COL4A3 , COL4A4 , and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence techniqueSemantic proximity Read ↗

Detection of mutations in COL4A5 in patients with Alport syndrome.Semantic proximity Read ↗

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.Semantic proximity Read ↗

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Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.Semantic proximity Read ↗

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Semantic proximity Read ↗

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