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Journal Abstract Search

275 related items for PubMed ID: 14978696

  • 1. Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections.
    Agudelo-Flórez P, Costa-Carvalho BT, López JA, Redher J, Newburger PE, Olalla-Saad ST, Condino-Neto A.
    Am J Hematol; 2004 Mar; 75(3):151-6. PubMed ID: 14978696
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  • 3. Three new exon 10 glucose-6-phosphate dehydrogenase mutations.
    Beutler E, Westwood B, Melemed A, Dal Borgo P, Margolis D.
    Blood Cells Mol Dis; 1995 Mar; 21(1):64-72. PubMed ID: 7655862
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  • 4. Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics.
    Agudelo-Flórez P, Prando-Andrade CC, López JA, Costa-Carvalho BT, Quezada A, Espinosa FJ, de Souza Paiva MA, Roxo P, Grumach A, Jacob CA, Carneiro-Sampaio MM, Newburger PE, Condino-Neto A.
    Pediatr Blood Cancer; 2006 Feb; 46(2):243-52. PubMed ID: 16123991
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  • 7. A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.
    de Boer M, Hartl D, Wintergerst U, Belohradsky BH, Roos D.
    Blood Cells Mol Dis; 2005 Feb; 35(3):365-9. PubMed ID: 16157492
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  • 9. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Kurdish population of Western Iran.
    Rahimi Z, Vaisi-Raygani A, Nagel RL, Muniz A.
    Blood Cells Mol Dis; 2006 Feb; 37(2):91-4. PubMed ID: 16938474
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  • 10. Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.
    Jablonska-Skwiecinska E, Lewandowska I, Plochocka D, Topczewski J, Zimowski JG, Klopocka J, Burzynska B.
    Hum Mutat; 1999 Feb; 14(6):477-84. PubMed ID: 10571945
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  • 11. Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.
    Minucci A, Concolino P, Antenucci M, Santonocito C, Ameglio F, Zuppi C, Giardina B, Capoluongo E.
    Clin Biochem; 2007 Aug; 40(12):856-8. PubMed ID: 17524386
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  • 12. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency.
    Iwata M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, Ohmi S, Kanegasaki S, Matsuda I.
    Biochem Biophys Res Commun; 1994 Mar 30; 199(3):1372-7. PubMed ID: 8147881
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  • 13. Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.
    Barese CN, Copelli SB, De Matteo E, Zandomeni R, Salgueiro F, Di Giovanni D, Heyworth P, Rivas EM.
    Pediatr Blood Cancer; 2005 Apr 30; 44(4):420-2. PubMed ID: 15468310
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  • 14. Chronic granulomatous disease: towards gene therapy.
    Thrasher A, Segal A, Casimir C.
    Immunodeficiency; 1993 Apr 30; 4(1-4):327-33. PubMed ID: 8167728
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  • 15. A Novel de novo Mutation in the G6PD Gene in a Korean Boy with Glucose-6-phosphate Dehydrogenase Deficiency: Case Report.
    Jang MA, Kim JY, Lee KO, Kim SH, Koo HH, Kim HJ.
    Ann Clin Lab Sci; 2015 Apr 30; 45(4):446-8. PubMed ID: 26275698
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  • 17. 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 30; 18(2):163. PubMed ID: 11462241
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  • 18. Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report.
    Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D.
    Am J Hematol; 2005 Sep 30; 80(1):50-4. PubMed ID: 16138344
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  • 19. [Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].
    Yu GL, Jiang WY, Du CS, Lin QD, Chen LM, Tian QH, Li SG, Zeng JB.
    Zhonghua Xue Ye Xue Za Zhi; 2004 Oct 30; 25(10):610-2. PubMed ID: 15634595
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