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[Rapid detection of hot spot mutations of FGFR3 gene with PCR-high resolution melting assay].

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

Li Shan, Wang Han, Su Hua, Gao Jinsong, Zhao Xiuli

Abstract excerpt

OBJECTIVE: To identify the causative mutations in five individuals affected with dyschondroplasia and develop an efficient procedure for detecting hot spot mutations of the FGFR3 gene. METHODS: Genomic DNA was extracted from peripheral blood samples with a standard phenol/chloroform method. PCR-Sanger sequencing was used to analyze the causative mutations in the five probands. PCR-high resolution melting (HRM)...

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Identifiers

PMID: 28777845
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.006

Genes

FGFR3

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