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Article

[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2007

Zhang Meng, Liu Shi-guo, Li Fei-feng, Zhou Wan-hao, Jin Xiao-hua, Ma Xu

Abstract excerpt

OBJECTIVE: To develop a new denaturing high performance liquid chromatograph (DHPLC)-based method to screen patients with EXT gene mutation and to study the gene mutation in three families with multiple exostoses. METHODS: All the exons of EXT gene, including the intro-exon boundaries, were amplified by PCR. Linkage analysis and DHPLC screening were carried out to identify the mutations. DNA sequencing was used...

Read the complete abstract on PubMed

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Share to Chromatography, High Pressure Liquid
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Polyacrylamide Gel

Share to Exostoses, Multiple Hereditary

Share to Exostosin 1

Share to Mutation

Share to N-Acetylglucosaminyltransferases

Source

Identifiers

PMID: 18067075

Genes

EXT2
EXT1

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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