Article
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Wu Yunqin, Li Guinan, Zhou Yong, Li Jun, Hu Yueyuan
Abstract excerpt
OBJECTIVE: To detect potential mutation of the UGT1A1 gene in a child affected with Crigler-Najjar syndrome type II. METHODS: Blood samples were collected from the patient and his parents for the extraction of genomic DNA. Potential mutation of the UGT1A1 gene was detected with polymerase chain reaction (PCR) and direct sequencing. The child was followed up until the age of 3 years and 6 months. RESULTS: The...
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