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Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with… Click to show full abstract
Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base duplication mutation in GFAP resulting in E243dup.
Keywords:
three base;
base duplication;
alexander disease
Journal Title: Human Genome Variation
Year Published: 2017
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Journal Title: Human Genome Variation
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!