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Article

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.

Human mutation - 1 Sept 2005

Pedrini Elena, De Luca Alessandro, Valente Enza Maria, Maini Veronica, Capponcelli Silvia, Mordenti Marina, Mingarelli Rita, Sangiorgi Luca, Dallapiccola Bruno

Abstract excerpt

We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep approach. We first analysed 36 unrelated pr...

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Source

Identifiers

PMID: 16088908
DOI: 10.1002/humu.9359

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16088908-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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