G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

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Article

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

The Journal of biological chemistry - 15 Mar 1991

Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F

Abstract excerpt

We identified a splicing mutation in a patient with Ehlers-Danlos syndrome type IV, a heritable connective tissue disorder associated with dysfunctions of type III collagen. The mutation was first localized in the patient's type III procollagen mRNA by amplifying the reverse transcribed product in several overlapping fragments using the polymerase chain reaction. Amplified products spanning exon 24-26 sequences...

Topics

Alleles
Autoradiography
Base Sequence
DNA
Ehlers-Danlos Syndrome
Exons
Guanine
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Procollagen

RNA Splicing

RNA, Messenger

Thymine

Transcription, Genetic

Source

Open in PubMed

Identifiers

PMID: 1672129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1672129-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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