Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease

Abstract excerpt

Background and Objectives: (glial fibrillary acidic protein). Over 180 variants have been associated with the disease, with a wide spectrum of severity and clinical manifestations. Previous attempts at genotype-phenotype correlations have been hampered by the small numbers of cases that have been published for many of the variants. We sought to determine whether genotype-phenotype correlations could be discerned...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromatin Remodeling and Cancer
• Share to Fetal and Pediatric Neurological Disorders
• Share to RNA regulation and disease