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Article

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

BMC medical genomics - 8 Jul 2024

Wang Duocai, Pan Meize, Li Hang, Li Minchun, Li Ping, Xiong Fu, Xiao Hongbo

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical picture, particularly when the typical features, include persistent hematuria and microscopic changes in the glomerular basement membrane (GBM), are the only clinical...

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Identifiers

PMID: 38978054
DOI: 10.1186/s12920-024-01953-0
PMCID: PMC11229269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.PMID 38978054Read ↗

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