Gene-scan method for the recognition of carriers and patients with p47phox-deficient autosomal recessive chronic granulomatous disease

Experimental Hematology

Volumn 29, Issue 11, 2001, Pages 1319-1325

  Dekker, Jan ^a   De Boer, Martin ^a   Roos, Dirk ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b CENTRAL LABORATORY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P47; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ANALYTIC METHOD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; FEMALE; GENE DELETION; GENETIC DISORDER; HETEROZYGOTE; HUMAN; INTRON; LEUKOCYTE; MALE; PHAGOCYTE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; PSEUDOGENE; SEQUENCE HOMOLOGY;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HETEROZYGOTE DETECTION; HUMANS; MALE; NADPH OXIDASE; PHOSPHOPROTEINS; POLYMERASE CHAIN REACTION; PSEUDOGENES; RECOMBINATION, GENETIC; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION;

EID: 0034764060     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(01)00731-7     Document Type: Article

References (12)

1. Chronic granulomatous disease
2. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
3. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat
4. In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease patients
5. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency
6. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
7. Autosomal chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: Mutations not arising in the NCF-1 pseudogenes
8. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes
9. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease
10. Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
11. A complete physical contig and partial transcript map of the Williams syndrome critical region
12. Detection of carriers of the autosomal form of chronic granulomatous disease