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Article

[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 1 Aug 2007

Li Wei, Hu Zheng-Mao, Xie Zhi-Guo, He Hong-Bo, Pan Qian, Xia Kun, Xia Jia-Hui

Abstract excerpt

OBJECTIVE: To explore the disease associated gene mutation of multiple exostoses by family analysis. METHODS: Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation. RESULTS: We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17767039

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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