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Article

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.

BMC medical genomics - 26 Apr 2024

Chen Suyun, Xu Guangbiao, Zhao Zhixin, Du Juping, Shen Bo, Li Chunping

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3-5 chains of type IV collagen in the glomerular basement membrane. AS has three genetic models: X-linked, autosomal recessive, and autosomal dominant. The most common type of AS is X-linked...

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Source

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Identifiers

PMID: 38671472
DOI: 10.1186/s12920-024-01878-8
PMCID: PMC11046743

Genes

COL4A5

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.PMID 38671472Read ↗

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A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.Semantic proximity Read ↗

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewSemantic proximity Read ↗

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

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.Semantic proximity Read ↗

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

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The analysis of X-linked Alport syndrome caused by a novel COL4A5 gene aberrant splicingSemantic proximity Read ↗

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