Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation-Reference-Cited by-同舟云学术

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

Published:2001-11 Issue:5 Volume:69 Page:1134-1140
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant;Alexander;Brain,1949

2. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis;Bonifas;J Invest Dermatol,1994

3. Alexander’s disease, a disease of astrocytes;Borrett;Brain,1985

4. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease;Brenner;Nature Genet,2001

5. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein;Brenner;Mol Brain Res,1990

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