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An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP

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Title: An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
Authors: Asahina, Naoko Browse this author
Okamoto, Takayuki Browse this author
Sudo, Akira Browse this author
Kanazawa, Naomi Browse this author
Tsujino, Seiichi Browse this author
Saitoh, Shinji Browse this author →KAKEN DB
Keywords: Alexander disease
glial fibrillary acidic protein
genotype-phenotype
correlation
infantile form
juvenile form
Issue Date: Mar-2006
Publisher: Elsevier
Journal Title: Brain and Development
Volume: 28
Issue: 2
Start Page: 131
End Page: 133
Publisher DOI: 10.1016/j.braindev.2005.05.004
PMID: 16168593
Abstract: Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In a six-yearold patient with a relatively mild form of Alexander disease, we detected a common R79H mutation in GFAP previously only described in the infantile form. These results suggest the need for further studies of the genotype-phenotype correlation.
Relation: http://www.sciencedirect.com/science/journal/03877604
Type: article (author version)
URI: http://hdl.handle.net/2115/8415
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 齋藤 伸治

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