Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates f...

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Autores principales: Rodriguez, Diana, Gauthier, Fernande, Bertini, Enrico, Bugiani, Marianna, Brenner, Michael, N'guyen, Sylvie, Goizet, Cyril, Gelot, Antoinette, Surtees, Robert, Pedespan, Jean-Michel, Hernandorena, Xavier, Troncoso, Monica, Uziel, Graziela, Messing, Albee, Ponsot, Gérard, Pham-Dinh, Danielle, Dautigny, André, Boespflug-Tanguy, Odile
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274357/
https://ncbi.nlm.nih.gov/pubmed/11567214
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