c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease

Autor: Karp, Natalya, Lee, Donald, Shickh, Salma, Jenkins, Mary E.
Zdroj: In European Journal of Medical Genetics April 2019 62(4):235-238
Databáze: ScienceDirect