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Article

Identification of novel mutations in the human EXT1 tumor suppressor gene.

Human genetics - 1 May 1997

Wells D E, Hill A, Lin X, Ahn J, Brown N, Wagner M J

Abstract excerpt

Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene. We have identified six mutations in the human EXT1 gene from six unrelated multiple exostoses families...

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Source

Identifiers

PMID: 9150727
DOI: 10.1007/s004390050415

Genes

EXT1
EXT2

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of novel mutations in the human EXT1 tumor suppressor gene.PMID 9150727Read ↗

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[Identification of mutations in the human EXT1 and EXT2 genes].Semantic proximity Read ↗

Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.Semantic proximity Read ↗

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.Semantic proximity Read ↗

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