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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 w...

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Source

Identifiers

PMID: 23364391
DOI: 10.1038/jhg.2012.152

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23364391-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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