Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation

American Journal of Human Genetics

Volumn 69, Issue 5, 2001, Pages 1134-1140

  Rodriguez, Diana ^a,b,d   Gauthier, Fernande ^a   Bertini, Enrico ^e   Bugiani, Marianna ^f   Brenner, Michael ^g   N’Guyen, Sylvie ^h   Goizet, Cyril ⁱ   Gelot, Antoinette ^c   Surtees, Robert ^j   Pedespan, Jean Michel ⁱ   Hernandorena, Xavier ^k   Troncoso, Monica ^l   Uziel, Graziela ^f   Messing, Albee ^m   Ponsot, Gérard ^b   Pham Dinh, Danielle ^a   Dautigny, André ^a  

^a INSERM   (France)

^b Service de neuropédiatrie HÔpital Armand Trousseau AP HP   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^h NANTES UNIVERSITY HOSPITAL   (France)

ⁱ HÔPITAL PELLEGRIN   (France)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k CH Côte Basque Service de Pédiatrie   (France)

^l HOSPITAL SAN BORJA ARRIARÁN   (Chile)

^m UNIVERSITY OF WISCONSIN MADISON   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC MARKER; GENOTYPE; HUMAN; INFANT; MACROCEPHALY; MISSENSE MUTATION; NEUROPATHOLOGY; NEWBORN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0034753242     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323799     Document Type: Article

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