An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1537, Issue 2, 2001, Pages 125-131

  Noack, Deborah ^a   Heyworth, Paul G ^a   Newburger, Peter E ^b   Cross, Andrew R ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Chronic granulomatous disease; CYBB; Flavocytochrome b558; Gp91phox; Intronic mutation; NADPH oxidase

Indexed keywords

CELL PROTEIN; CYTOCHROME B558; DNA; GLYCOPROTEIN; PROTEIN P22 PHOX; PROTEIN P47 PHOX; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; SUPEROXIDE; TUBULIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC TRANSCRIPTION; GRANULOMATOSIS; HUMAN; INFANT; INTRON; MALE; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; X CHROMOSOMAL INHERITANCE;

B-LYMPHOCYTES; EXONS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; INTRONS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0035964987     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00065-5     Document Type: Article

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