Article
[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2011
Jiao Hui, Xiong Hui, Zhang Yan-zhi, Wang Shuo, Yang Yan-ling, Wu Xi-ru
Abstract excerpt
OBJECTIVE: To study the clinical feature of a Chinese family with muscle-eye-brain disease (MEB) and the mutation of protein O-linked-mannose beta-1, 2-N-acetylglucosaminyltransferase 1 gene (POMGNT1). METHODS: Clinical data of the proband and his family members were collected. Genomic DNA from the patient and his parents was extracted using standard procedures from the peripheral blood leukocytes. Polymerase...
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