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Article

Hereditary multiple exostoses and heparan sulfate polymerization.

Biochimica et biophysica acta - 19 Dec 2002

Zak Beverly M, Crawford Brett E, Esko Jeffrey D

Abstract excerpt

Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide a...

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Share to N-Acetylglucosaminyltransferases
Share to Exostoses, Multiple Hereditary
Share to Exostosin 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Fibroblast Growth Factors

Share to Heparitin Sulfate

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Source

Identifiers

PMID: 12417417
DOI: 10.1016/s0304-4165(02)00402-6

Genes

EXT1
EXT2
EXTL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12417417-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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