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4. Absence of both cytochrome b-245 subunits from neutrophils in X-linked chronic granulomatous disease. Segal AW Nature; 1987 Mar 5-11; 326(6108):88-91. PubMed ID: 3821877 [TBL] [Abstract][Full Text] [Related]
5. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Dinauer MC; Orkin SH; Brown R; Jesaitis AJ; Parkos CA Nature; 1987 Jun 25-Jul 1; 327(6124):717-20. PubMed ID: 3600768 [TBL] [Abstract][Full Text] [Related]
6. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. Dinauer MC; Pierce EA; Bruns GA; Curnutte JT; Orkin SH J Clin Invest; 1990 Nov; 86(5):1729-37. PubMed ID: 2243141 [TBL] [Abstract][Full Text] [Related]
7. A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. Dinauer MC; Curnutte JT; Rosen H; Orkin SH J Clin Invest; 1989 Dec; 84(6):2012-6. PubMed ID: 2556453 [TBL] [Abstract][Full Text] [Related]
8. Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease. Kumatori A; Faizunnessa NN; Suzuki S; Moriuchi T; Kurozumi H; Nakamura M Genomics; 1998 Oct; 53(2):123-8. PubMed ID: 9790760 [TBL] [Abstract][Full Text] [Related]
9. A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. Leusen JH; de Boer M; Bolscher BG; Hilarius PM; Weening RS; Ochs HD; Roos D; Verhoeven AJ J Clin Invest; 1994 May; 93(5):2120-6. PubMed ID: 8182143 [TBL] [Abstract][Full Text] [Related]
10. Cytochrome b-245 and its involvement in the molecular pathology of chronic granulomatous disease. Segal AW Hematol Oncol Clin North Am; 1988 Jun; 2(2):213-23. PubMed ID: 3292507 [TBL] [Abstract][Full Text] [Related]
11. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. Stasia MJ; Bordigoni P; Martel C; Morel F Hum Genet; 2002 May; 110(5):444-50. PubMed ID: 12073015 [TBL] [Abstract][Full Text] [Related]
12. Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. Köker MY; Sanal O; de Boer M; Tezcan I; Metin A; Tan C; Ersoy F; Roos D Eur J Clin Invest; 2006 Apr; 36(4):257-64. PubMed ID: 16620288 [TBL] [Abstract][Full Text] [Related]
13. [DNA analysis of cytochrome b positive chronic granulomatous disease (a case report)]. Azuma H Rinsho Byori; 1994 Mar; 42(3):242-8. PubMed ID: 8152159 [TBL] [Abstract][Full Text] [Related]
14. Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. Segal AW; Cross AR; Garcia RC; Borregaard N; Valerius NH; Soothill JF; Jones OT N Engl J Med; 1983 Feb; 308(5):245-51. PubMed ID: 6848934 [TBL] [Abstract][Full Text] [Related]
15. Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB. Stasia MJ; Brion JP; Boutonnat J; Morel F J Infect Dis; 2003 Nov; 188(10):1593-604. PubMed ID: 14624387 [TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Casimir CM; Bu-Ghanim HN; Rodaway AR; Bentley DL; Rowe P; Segal AW Proc Natl Acad Sci U S A; 1991 Apr; 88(7):2753-7. PubMed ID: 2011585 [TBL] [Abstract][Full Text] [Related]
17. The search for a genetic defect in Polish patients with chronic granulomatous disease. Jurkowska M; Kurenko-Deptuch M; Bal J; Roos D Arch Immunol Ther Exp (Warsz); 2004; 52(6):441-6. PubMed ID: 15577746 [TBL] [Abstract][Full Text] [Related]
18. Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). Gérard B; El Benna J; Alcain F; Gougerot-Pocidalo MA; Grandchamp B; Chollet-Martin S Hum Mutat; 2001 Aug; 18(2):163. PubMed ID: 11462241 [TBL] [Abstract][Full Text] [Related]
19. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Royer-Pokora B; Kunkel LM; Monaco AP; Goff SC; Newburger PE; Baehner RL; Cole FS; Curnutte JT; Orkin SH Nature; 1986 Jul 3-9; 322(6074):32-8. PubMed ID: 2425263 [TBL] [Abstract][Full Text] [Related]
20. "Forward" and "reverse" genetics of inherited human disorders: the thalassemia syndromes and chronic granulomatous disease. Orkin SH Harvey Lect; 1987-1988; 83():57-76. PubMed ID: 3334140 [No Abstract] [Full Text] [Related] [Next] [New Search]