A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease
- 1 October 2001
- journal article
- case report
- Published by Elsevier in Neuroscience Letters
- Vol. 312 (2) , 71-74
- https://doi.org/10.1016/s0304-3940(01)02139-5
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 5 references indexed in Scilit:
- Alexander Disease: New Insights From GeneticsJournal of Neuropathology and Experimental Neurology, 2001
- Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander diseaseNature Genetics, 2001
- Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiencyEuropean Journal of Pediatrics, 2000
- INTERMEDIATE FILAMENTS: Structure, Dynamics, Function and DiseaseAnnual Review of Biochemistry, 1994
- Characterization of human cDNA and genomic clones for glial fibrillary acidic proteinMolecular Brain Research, 1990