Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

Nature Genetics

Volumn 27, Issue 1, 2001, Pages 117-120

  Brenner, Michael ^a   Johnson, Anne B ^b   Boespflug Tanguy, Odile ^c   Rodriguez, Diana ^d   Goldman, James E ^e   Messing, Albee ^f  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c INSERM   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e College of Physicians and Surgeons ^*  (United States)

^f UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; INFANT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; ASTROCYTES; BASE SEQUENCE; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA RESTRICTION ENZYMES; EUROPE; FEMALE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PSYCHOMOTOR DISORDERS; SEIZURES;

ATAXIA; MUS MUSCULUS; VERTEBRATA;

EID: 0035163913     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/83679     Document Type: Article

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