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

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

Abstract 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...

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Bibliographische Detailangaben
Hauptverfasser: Katayoun Heshmatzad, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia
Format: Artikel
Sprache:English
Veröffentlicht: BMC 2022-09-01
Schriftenreihe:European Journal of Medical Research
Schlagworte:
Infantile Alexander disease
GFAP
Leukodystrophy
Whole-exome sequencing
Genetics
In silico analysis
Online Zugang:https://doi.org/10.1186/s40001-022-00799-5

Online

https://doi.org/10.1186/s40001-022-00799-5

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