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Article

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Human molecular genetics - 1 Feb 1994

Lemmink H H, Kluijtmans L A, Brunner H G, Schröder C H, Knebelmann B, Jelínková E, van Oost B A, Monnens L A, Smeets H J

Abstract excerpt

A variety of mutations have been identified in the X-linked type IV collagen alpha 5 chain (COL4A5) gene in patients with Alport syndrome. A substantial number of these mutations were predicted to have an effect on RNA splicing. For 4 such mutations in our group of patients the effect of the DNA mutation on the COL4A5 mRNA structure and stability was analysed. An alteration of the invariant splice acceptor site...

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Identifiers

PMID: 8004101
DOI: 10.1093/hmg/3.2.317

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.PMID 8004101Read ↗

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

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.Semantic proximity Read ↗

X-linked Alport syndrome caused by splicing mutations in COL4A5.Semantic proximity Read ↗

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.Semantic proximity Read ↗

Detection of mutations in COL4A5 in patients with Alport syndrome.Semantic proximity Read ↗

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.Semantic proximity Read ↗

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Semantic proximity Read ↗

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.Semantic proximity Read ↗

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.Semantic proximity Read ↗

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.Semantic proximity Read ↗

Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.Semantic proximity Read ↗

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.Semantic proximity Read ↗

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