Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: Significance for A47° chronic granulomatous disease carrier detection

Blood

Volumn 100, Issue 5, 2002, Pages 1845-1851

  Heyworth, Paul G ^a   Noack, Deborah ^a   Cross, Andrew R ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN NCF 1; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 7Q; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; CROSSING OVER; DISEASE CARRIER; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; STOP CODON;

EID: 0036720555     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-03-0861     Document Type: Article

References (21)

1. Chronic granulomatous disease
2. Genetic, biochemical, and clinical features 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
5. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency
6. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease
7. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
8. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: Mutations not arising in the NCF-1 pseudogenes
9. 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
10. Primary immunodeficiency mutation databases
11. Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (first update)
12. Hematologically important mutations: X-linked chronic granulomatous disease-second update
13. Chronic granulomatous disease - Report on a national registry of 368 patients
14. Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF-2) and 7q11.23 (NCF-1)
15. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease
16. A complete physical contig and partial transcript map of the Williams syndrome critical region
17. Comparative mapping of the region of human chromosome 7 deleted in Williams syndrome
18. A 1.5 millionbase pair inversion polymorphism in families with Williams-Beuren syndrome
19. Genomic structure of the human p47-phox (NCF1) gene
20. Hemizygosity at the elastin locus In a developmental disorder, Williams syndrome
21. phox-deficient autosomal recessive chronic granulomatous disease