Article
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017
Zhang Ting, Hong Fang, Qian Guling, Tong Fan, Zhou Xuelian, Huang Xiaolei, Yang Rulai, Huang Xinwen
Abstract excerpt
OBJECTIVE: To delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency. METHODS: Clinical information and results of auxiliary examination of the patient were analyzed. Next-generation sequencing of the mitochondrial genome and related nuclear genes was carried out. Suspected mutation was confirmed in both parents with Sanger sequencing....
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