Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

Human Mutation

Volumn 13, Issue 1, 1999, Pages 29-37

  Patiño, Pablo J ^a   Perez, Juan E ^a   Lopez, Juan A ^a   Condino Neto, Antonio ^b   Grumach, Anete S ^c   Botero, Jorge H ^a   Curnutte, John T ^d   De Olarte, Diana García ^a  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d GENENTECH INC   (United States)

Author keywords

Chronic granulomatous disease; DNA sequencing; Mutations in gp91 phox; Neutrophils; SSCP PCR

Indexed keywords

CYTOCHROME B558; GP91 PHOX; PHAGOCYTE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRAZIL; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; COLOMBIA; CONTROLLED STUDY; DNA SEQUENCE; ELECTRON TRANSPORT; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MONONUCLEAR CELL; NUCLEIC ACID BASE SUBSTITUTION; PHAGOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT INFECTION; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

ADOLESCENT; BRAZIL; CHILD, PRESCHOOL; COLOMBIA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; NADPH OXIDASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

BACTERIA (MICROORGANISMS);

EID: 0032923790     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X     Document Type: Article

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