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Article

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

BMC nephrology - 31 Oct 2017

Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-Carpio M, Domínguez-Garrido E

Abstract excerpt

BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and...

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Identifiers

PMID: 29089023
DOI: 10.1186/s12882-017-0735-y
PMCID: PMC5664579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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