Article
[Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Chen Xiaolu, Qu Haibo, Yu Tao, Luo Rong
Abstract excerpt
OBJECTIVE: To detect potential mutation of MLC1 gene in a child affected with megalencephalic leukoencephalopathy with subcortical cysts (MLC). METHODS: Clinical symptoms of the patient were retrieved. Peripheral blood DNA samples from the patient, her parents and healthy controls were collected. Potential mutation of the MLC1 gene was detected by polymerase chain reaction and Sanger sequencing. RESULTS: The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.