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Article

Mutation screening for the EXT1 and EXT2 genes in Chinese patients with multiple osteochondromas.

Archives of medical research - 1 Oct 2013

Kang Qing-lin, Xu Jia, Zhang Zeng, He Jin-wei, Fu Wen-zhen, Zhang Zhen-lin

Abstract excerpt

BACKGROUND AND AIMS: Multiple osteochondromas (MO), an autosomal dominant skeletal disease, is characterized by the presence of multiple cartilage-capped bone tumors (exostoses). Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2. In this study, a variety of EXT1 and EXT2 gene mutations were identified in ten Chinese...

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Source

Identifiers

PMID: 24120389
DOI: 10.1016/j.arcmed.2013.09.008

Genes

EXT1
EXT2

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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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