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Article

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Human genetics - 1 Jan 1992

Richards A J, Lloyd J C, Narcisi P, Ward P N, Nicholls A C, De Paepe A, Pope F M

Abstract excerpt

A large family with Ehlers-Danlos syndrome type IV (EDS IV) has previously been described. Unlike most cases of EDS IV, fibroblasts from affected members secreted near normal amounts of type III collagen. We have localized the mutation in this family to the CB5 peptide of type III collagen, by using both protein and cDNA mapping techniques. Sequence analysis of cDNA revealed a 27-bp deletion within exon 37, a...

Topics

Alleles
Base Sequence
Chromosome Deletion
Cloning, Molecular
Collagen
Cyanogen Bromide
DNA
Ehlers-Danlos Syndrome
Electrophoresis, Polyacrylamide Gel
Humans
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peptide Mapping

Polymerase Chain Reaction

RNA

Source

Identifiers

PMID: 1370809
DOI: 10.1007/BF00197268

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1370809-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.PMID 1370809Read ↗

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