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Article

Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.

Journal of the American Society of Nephrology : JASN - 1 Aug 1995

Kitagawa K, Nakanishi K, Iijima K, Nishio H, Sado Y, Sano K, Nakamura H, Yoshikawa N

Abstract excerpt

Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane and neurosensory deafness. Mutations in the COL4A5 gene encoding the Type IV collagen alpha 5 chain have been reported to occur in patients with X-linked Alport syndrome. A girl with hematuric nephritis, characteristic basket-weave glomerular basement...

Topics

Base Sequence
Basement Membrane
Child
Collagen
DNA
Exons
Female
Hematuria
Humans
Kidney Glomerulus
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephritis, Hereditary

Polymerase Chain Reaction

X Chromosome

Source

Identifiers

PMID: 7579094
DOI: 10.1681/ASN.V62264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7579094-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.PMID 7579094Read ↗

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