Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing

BACKGROUND: Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset types. OBJECTIVE: The aim of this study is to report a nove...

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Detalles Bibliográficos
Autores principales: Heshmatzad, Katayoun, Naderi, Niloofar, Masoumi, Tannaz, Pouraliakbar, Hamidreza, Kalayinia, Samira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464415/
https://www.ncbi.nlm.nih.gov/pubmed/36088400
http://dx.doi.org/10.1186/s40001-022-00799-5

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