Article
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
Journal of human genetics - 1 Apr 2013
Zang Lili, Wang Jingmin, Jiang Yuwu, Gu Qiang, Gao Zhijie, Yang Yanling, Xiao Jiangxi, Wu Ye
Abstract excerpt
To delineate the phenotype and genotype in Chinese children with type I Alexander disease (AxD) and the parental origin of de novo glial fibrillary acidic protein (GFAP) mutations. Twenty-two children with clinically diagnosed type I AxD were followed up for 1.66-6.62 years. Allele-specific PCR was used for the analysis of parental origin of the allele harboring the de novo mutation. Phenotype of these patients...
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