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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Katayoun Heshmatzad, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia
التنسيق: مقال
اللغة:English
منشور في: BMC 2022-09-01
سلاسل:European Journal of Medical Research
الموضوعات:
Infantile Alexander disease
GFAP
Leukodystrophy
Whole-exome sequencing
Genetics
In silico analysis
الوصول للمادة أونلاين:https://doi.org/10.1186/s40001-022-00799-5

الانترنت

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

مواد مشابهة