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Article

A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.

Genomics - 1 Apr 1993

Vikkula M, Ritvaniemi P, Vuorio A F, Kaitila I, Ala-Kokko L, Peltonen L

Abstract excerpt

Type II collagen is coded by a large gene (COL2A1) consisting of 54 exons on chromosome 12. During the past few years several cartilage disorders have been linked to this gene, and some specific nucleotide changes have been identified in patients. In a spondyloepiphyseal form of chondrodysplasia, the three mutations found so far are all in exon 48 in the region coding for the carboxyl-terminal end of the triple...

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Identifiers

PMID: 8486375
DOI: 10.1006/geno.1993.1179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.PMID 8486375Read ↗

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Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.Semantic proximity Read ↗

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Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

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A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

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Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

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