Article

Two novel GFAP mutations and genotype-phenotype associations in Alexander disease

2023-08-03

Abstract excerpt

<h4>Background: </h4> Alexander disease (AxD) is a rare genetic disorder caused by mutations in the GFAP gene, which encodes glial fibrillary acidic protein and leads to astrocyte dysfunction. This study aims to report two novel GFAP mutations in Chinese AxD patients and summarize genotype-phenotype associations of AxD patients reported in the literature. Methods and Results A 65-year-old male presented with grad...

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Literature Corpus work: 5c524bdb-6be1-50c3-a3cc-403fee268225
DOI: 10.21203/rs.3.rs-3215590/v1

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