Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease

Human Genetics

Volumn 116, Issue 1-2, 2005, Pages 72-82

  Stasia, Marie José ^a   Bordigoni, Pierre ^b   Floret, Daniel ^c   Brion, Jean Paul ^a   Bost Bru, Cécile ^a   Michel, Gérard ^d   Gatel, Pierre ^e   Durant Vital, Denis ^f   Voelckel, Marie Antoinette ^d   Li, Xing Jun ^a   Guillot, Michèle ^a   Maquet, Elisabeth ^a   Martel, Cécile ^a   Morel, Françoise ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c EDOUARD HERRIOT HOSPITAL   (France)

^d TIMONE HOSPITAL   (France)

^e CH Côte Basque Service de Pédiatrie   (France)

^f HOSPICES CIVILS DE LYON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; ASPARTIC ACID; CYSTEINE; CYTOCHROME B558; GLYCINE; LEUCINE; MESSENGER RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; TRYPTOPHAN;

ARTICLE; BINDING SITE; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; STOP CODON; SYMPTOMATOLOGY; X CHROMOSOME LINKED DISORDER;

GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; IMMUNOBLOTTING; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; N-FORMYLMETHIONINE LEUCYL-PHENYLALANINE; NADPH OXIDASE; PHENOTYPE; TETRADECANOYLPHORBOL ACETATE;

EID: 19944428278     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1208-5     Document Type: Article

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