Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

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Article

Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

The Journal of biological chemistry - 15 Sept 1990

Weil D, D'Alessio M, Ramirez F, Eyre D R

Abstract excerpt

A splicing mutation in the pro-alpha 2(I) collagen gene of a patient with Ehlers-Danlos syndrome type VII has been characterized. Protein microsequencing of peptides prepared from the patient's dermal collagen identified an interstitial deletion of 18 residues. The deleted segment corresponds to...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cloning, Molecular
Ehlers-Danlos Syndrome
Exons
Genes
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Procollagen
RNA Splicing
RNA, Messenger
Reference Values
Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 2394758

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2394758-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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