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[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017

Li Jie, Xu Peiwen, Huang Sexin, Gao Ming, Zou Yang, Kang Ranran, Gao Yuan

Abstract excerpt

OBJECTIVE: To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH). METHODS: PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples. RESULTS: A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in...

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Identifiers

PMID: 28397222
DOI: 10.3760/cma.j.issn.1003-9406.2017.02.014

Genes

PHEX

Variants

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