Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47phox-deficient chronic granulomatous disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 10, 2013, Pages 1662-1672

  Hayrapetyan, Astghik ^a   Dencher, Paula C D ^a   Van Leeuwen, Karin ^a   De Boer, Martin ^a   Roos, Dirk ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Chronic granulomatous disease; Fusion gene; Genetic cross over; NCF1; NCF1 pseudogene; Partial NCF1 deletion

Indexed keywords

NEUTROPHIL CYTOSOLIC FACTOR 1; PROTEIN; PROTEIN P47; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ARTICLE; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; EXON; FEMALE; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; PSEUDOGENE;

Ψ-NCF1; CGD; CHRONIC GRANULOMATOUS DISEASE; CYBB; CYTOCHROME B BETA; EDTA; ETHYLENEDIAMINETETRAACETIC ACID; FUSION GENE; GENETIC CROSS-OVER; MLPA; MULTIPLEX LIGASE-DEPENDENT PROBE AMPLIFICATION; NCF1; NCF1 PSEUDOGENE; NEUTROPHIL CYTOSOLIC FACTOR-1; P47; PARTIAL NCF1 DELETION; PHAGOCYTE OXIDASE; PHOX; PROTEIN OF 47KD; PSEUDO-NCF1; REACTIVE OXYGEN SPECIES; ROS; SINGLE NUCLEOTIDE POLYMORPHISM; SNP;

ALLELES; DNA COPY NUMBER VARIATIONS; EXONS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INTRONS; NADPH OXIDASE; PSEUDOGENES;

EID: 84879568357     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.05.001     Document Type: Article

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