Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

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Article

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

American journal of human genetics - 1 Mar 1991

Lee B, D'Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A

Abstract excerpt

Ehlers-Danlos syndrome type IV (EDS IV) is an autosomal dominant condition characterized by extreme fragility of skin, blood vessels, intestine, gravid uterus, and lungs. The phenotype is accounted for by mutations affecting the integrity and/or synthesis of the precursor procollagen molecules of type III collagen. In this article, we report the elucidation of the molecular defect in an EDS IV patient whose type...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromosome Deletion
Collagen
DNA
Ehlers-Danlos Syndrome
Exons
Gene Frequency
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Molecular Sequence Data

Nucleotides

Pedigree

Polymorphism, Genetic

RNA, Messenger

Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 1998337
PMCID: PMC1682995

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1998337-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.PMID 1998337Read ↗

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