Article
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017
Li Bingxiao, Zhang Zhanhui, Wu Xia, Chen Wenchao, Chen Jianling, Lyu Qian, Liu Guosheng
Abstract excerpt
OBJECTIVE: To screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA). METHODS: Genomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing...
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