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Article

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2004

Hu Zheng-mao, Zheng Duo, Pan Qian, Yang Yi-feng, Zhao Tian-li, Liu Xiao-ping, Wu Ling-qian, Jiang Dong-gui, Xia Kun, Xia Jia-hui

Abstract excerpt

OBJECTIVE: To identify the gene causing hereditary multiple exostoses in a Chinese pedigree. METHODS: Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundari...

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Share to Exostoses, Multiple Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15079787

Genes

EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15079787-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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