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Article

[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2006

Xie Zhi-guo, Hu Zheng-mao, Pan Qian, Zhang Rui-fang, Liang De-sheng, Wu Ling-qian, Long Zhi-gao, Dai He-ping, Xia Kun, Xia Jia-hui

Abstract excerpt

OBJECTIVE: To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation. METHODS: Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation. RESULTS: By DNA sequencing, a mutation in the seventh intron was detected...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16604483

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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