The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

doi:10.1136/jmg.31.4.306

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Article

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

Journal of medical genetics - 1 Apr 1994

Carr A J, Chiodo A A, Hilton J M, Chow C W, Hockey A, Cole W G

Abstract excerpt

The features of a 32 year old woman with Ehlers-Danlos syndrome type VIIB and affected members of her family, resulting from a mutation in one COL1A2 allele, were studied. Her dermal type I collagen contained alpha 2(I) chains and mutant pN-alpha 2(I) chains in which the amino-terminal propeptide remained attached to the alpha 2(I) chain. She was heterozygous for an AG-->AC mutation at the splice acceptor site of...

Topics

Adult
Collagen
Ehlers-Danlos Syndrome
Exons
Female
Fractures, Bone
Heterozygote
Humans
Introns
Joints
Male
Microscopy, Electron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteogenesis Imperfecta

Pedigree

Phenotype

Point Mutation

RNA Splicing

Skin

Source

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Identifiers

PMID: 8071956
DOI: 10.1136/jmg.31.4.306
PMCID: PMC1049803

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8071956-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.PMID 8071956Read ↗

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Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.Semantic proximity Read ↗

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