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Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease

BACKGROUND AND OBJECTIVE: Alexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (GFAP) gene and is pathologically defined by Rosenthal fiber accumulation. Most mutations are exonic missense mutations, and splice site mutati...

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Detalles Bibliográficos
Autores principales:	Amano, Eiichiro, Yoshida, Tomokatsu, Mizuta, Ikuko, Oyama, Jun, Sakashita, Shingo, Ueyama, Syunsuke, Machida, Akira, Yokota, Takanori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488758/ https://www.ncbi.nlm.nih.gov/pubmed/34611548 http://dx.doi.org/10.1212/NXG.0000000000000626

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