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Article

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Human molecular genetics - 1 Aug 1994

Lemmink H H, Mochizuki T, van den Heuvel L P, Schröder C H, Barrientos A, Monnens L A, van Oost B A, Brunner H G, Reeders S T, Smeets H J

Abstract excerpt

A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous domain of the type IV collagen alpha 3 (COL4A3) chain gene. The five 3'-exons of this gene, located on chromosome 2qter, were tested by single strand conformation polymorphism analysis and direct sequencing. One patient was heterozygous and another homozygous (Mochizuki et al., Nature...

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Identifiers

PMID: 7987301
DOI: 10.1093/hmg/3.8.1269

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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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Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.PMID 7987301Read ↗

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