A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

doi:10.1038/ng0993-79

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Article

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Nature genetics - 1 Sept 1993

Warman M L, Abbott M, Apte S S, Hefferon T, McIntosh I, Cohn D H, Hecht J T, Olsen B R, Francomano C A

Abstract excerpt

The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification, such as growth plates. The precise function of type X collagen is unknown but the tissue-specific expression prompted us to examine the gene in hereditary disorders of car...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Cattle
Chickens
Collagen
DNA Mutational Analysis
Genes
Genes, Dominant
Humans
Mice
Molecular Sequence Data
Osteochondrodysplasias
Pedigree
Sequence Alignment
Sequence Deletion
Sequence Homology, Amino Acid

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Open in PubMed

Identifiers

PMID: 8220429
DOI: 10.1038/ng0993-79

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8220429-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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