A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease

Blood Cells, Molecules, and Diseases

Volumn 35, Issue 3, 2005, Pages 365-369

  De Boer, Martin ^a   Hartl, Dominik ^b   Wintergerst, Uwe ^b   Belohradsky, Bernd H ^b   Roos, Dirk ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

A220 CGD; Chronic granulomatous disease (CGD); Cryptic splice site; CYBA; p22 phox deficiency; Splice site mutation

Indexed keywords

AZATHIOPRINE; COMPLEMENTARY DNA; CORTICOSTEROID; CYTOCHROME; FLAVOCYTOCHROME B 558; GENOMIC DNA; NUCLEOTIDE; PROTEIN P22; RNA; SUPEROXIDE; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GLUTEN FREE DIET; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; INTRON; LABORATORY TEST; LUNG DISEASE; LUNG HEMORRHAGE; MALE; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; WILD TYPE;

BASE SEQUENCE; CHILD; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INTRONS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; NADPH OXIDASE; PHOSPHOPROTEINS; POINT MUTATION; RNA SPLICE SITES; RNA, MESSENGER;

EID: 27744486005     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.08.002     Document Type: Article

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