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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2001
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274357/
https://ncbi.nlm.nih.gov/pubmed/11567214
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