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[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2013

Ma Ming-yi, Li Hua, Cai Yan-sen

Abstract excerpt

OBJECTIVE: To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism. METHODS: Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0. Potential mutations were detected with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24078575
DOI: 10.3760/cma.j.issn.1003-9406.2013.05.016

Genes

PHEX

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