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Article

Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.

Genomics - 1 Dec 1991

Boye E, Vetrie D, Flinter F, Buckle B, Pihlajaniemi T, Hamalainen E R, Myers J C, Bobrow M, Harris A

Abstract excerpt

The gene coding for the alpha 5 chian of type IV collagen (alpha 5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an...

Topics

Base Sequence
Blotting, Southern
Collagen
DNA
Electrophoresis, Gel, Pulsed-Field
Female
Gene Rearrangement
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephritis, Hereditary

Polymerase Chain Reaction

Restriction Mapping

X Chromosome

Source

Identifiers

PMID: 1783380
DOI: 10.1016/0888-7543(91)90040-l

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1783380-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.PMID 1783380Read ↗

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