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Dominantly inherited form of hyperinsulinism caused by a gene mutation in the sulfonylurea receptor 1

✍ Scribed by Timo Otonkoski; Hanna Huopio; Frank Reimann; Rebecca Ashfield; Markku Laakso; Frances Ashcroft


Book ID
117369863
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
110 KB
Volume
50
Category
Article
ISSN
0168-8227

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## Abstract We report on a pedigree of dominantly‐inherited, adult‐onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. This pedigree highlights the importance of genetic analysis of the GFAP gene in leukodystrophy with palatal tremor. Β© 2004 Movement D