Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

doi:10.1073/pnas.87.10.3889

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Article

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

Proceedings of the National Academy of Sciences of the United States of America - 1 May 1990

Tiller G E, Rimoin D L, Murray L W, Cohn D H

Abstract excerpt

We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem duplication of 45 base pairs within exon 48 and results in the addition of 15 amino acids to the triple-helical domain of the alpha 1 chains of type II collagen derived from the abnormal allele. Although the repeating (Gly-Xaa-Yaa)n motif that...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Child
Cloning, Molecular
Collagen
DNA
Exons
Female
Genes
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Multigene Family

Mutation

Oligonucleotide Probes

Osteochondrodysplasias

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2339128
DOI: 10.1073/pnas.87.10.3889
PMCID: PMC54009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2339128-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.PMID 2339128Read ↗

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