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Journal Abstract Search

317 related items for PubMed ID: 12073015

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  • 4. Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.
    Porter CD, Parkar MH, Kinnon C.
    Hum Mutat; 1996; 7(4):374. PubMed ID: 8723692
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  • 10. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
    Patiño PJ, Rae J, Noack D, Erickson R, Ding J, de Olarte DG, Curnutte JT.
    Blood; 1999 Oct 01; 94(7):2505-14. PubMed ID: 10498624
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  • 11. Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
    Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B.
    Hum Mutat; 2006 Dec 01; 27(12):1218-29. PubMed ID: 16972229
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  • 12. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
    Yu G, Hong DK, Dionis KY, Rae J, Heyworth PG, Curnutte JT, Lewis DB.
    Clin Immunol; 2008 Aug 01; 128(2):117-26. PubMed ID: 18625437
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  • 13. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
    Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR.
    Blood; 2000 Aug 01; 96(3):1106-12. PubMed ID: 10910929
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  • 14. Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.
    Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, Movahedi M, Houshmand M, Pourpak Z.
    Iran J Allergy Asthma Immunol; 2012 Dec 01; 11(4):340-4. PubMed ID: 23264412
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  • 15. Mutations of chronic granulomatous disease in Turkish families.
    Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D.
    Eur J Clin Invest; 2007 Jul 01; 37(7):589-95. PubMed ID: 17576211
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  • 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 Jul 01; 52(6):441-6. PubMed ID: 15577746
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  • 19. Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).
    Gentsch M, Kaczmarczyk A, van Leeuwen K, de Boer M, Kaus-Drobek M, Dagher MC, Kaiser P, Arkwright PD, Gahr M, Rösen-Wolff A, Bochtler M, Secord E, Britto-Williams P, Saifi GM, Maddalena A, Dbaibo G, Bustamante J, Casanova JL, Roos D, Roesler J.
    Hum Mutat; 2010 Feb 01; 31(2):151-8. PubMed ID: 19953534
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  • 20. Chronic granulomatous disease: towards gene therapy.
    Thrasher A, Segal A, Casimir C.
    Immunodeficiency; 1993 Feb 01; 4(1-4):327-33. PubMed ID: 8167728
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