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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
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Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274357/
https://ncbi.nlm.nih.gov/pubmed/11567214
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