Article
[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2005
Ma Hong-wei, Lu Jun-feng, Jiang Jun, Chen Li-ying, Niu Guo-hui, Wu Bao-min, Kanazawa Naomi, Tsujino Seiichi
Abstract excerpt
OBJECTIVE: To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling. METHODS: DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.