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Article

Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses.

American journal of medical genetics - 15 Feb 2001

Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y

Abstract excerpt

Hereditary multiple exostoses (EXT) is an autosomal dominant bone disease characterized by the formation of cartilage-capped prominences. EXT is genetically heterogeneous with at least four chromosomal loci. Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned. Previous studies have shown that disease-type-specific frequency of mutations is different among various ethnic...

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Source

Identifiers

PMID: 11170095
DOI: 10.1002/1096-8628(20010215)99:1<59::aid-ajmg1115>3.0.co;2-z

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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