Article
[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017
Shi Xiaorong, Lin Xi, Ke Zhonglin, Chen Shuqing, Wu Bin, Mo Guiling
Abstract excerpt
OBJECTIVE: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease. METHODS: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. RESULTS: The patient was admitted at the age of 5 months due to severe...
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