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Journal Abstract Search

176 related items for PubMed ID: 17082011

  • 1. A novel mutation of the cytochrome-b5 reductase gene in an Indian patient: the molecular basis of type I methemoglobinemia.
    Nussenzveig RH, Lingam HB, Gaikwad A, Zhu Q, Jing N, Prchal JT.
    Haematologica; 2006 Nov; 91(11):1542-5. PubMed ID: 17082011
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  • 2. A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia.
    Kedar PS, Warang P, Nadkarni AH, Colah RB, Ghosh K.
    Blood Cells Mol Dis; 2008 Nov; 40(3):323-7. PubMed ID: 17964195
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  • 3. Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
    Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A.
    Blood Cells Mol Dis; 2008 Nov; 41(1):50-5. PubMed ID: 18343696
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  • 4. Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*.
    Davis CA, Crowley LJ, Barber MJ.
    Arch Biochem Biophys; 2004 Nov 15; 431(2):233-44. PubMed ID: 15488472
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  • 5. [Leu 72 Pro mutation in the NADH-cytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient].
    Wu Y, Huang C, Zhu Z.
    Zhonghua Xue Ye Xue Za Zhi; 1998 Apr 15; 19(4):195-7. PubMed ID: 11243135
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  • 6. Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.
    Percy MJ, Crowley LJ, Roper D, Vulliamy TJ, Layton DM, Barber MJ.
    Blood Cells Mol Dis; 2006 Apr 15; 36(1):81-90. PubMed ID: 16310381
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  • 7. [Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia].
    Kobayashi Y.
    Fukuoka Igaku Zasshi; 1990 Jan 15; 81(1):41-7. PubMed ID: 2323714
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  • 9. Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D.
    Davis CA, Barber MJ.
    Arch Biochem Biophys; 2004 May 15; 425(2):123-32. PubMed ID: 15111120
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  • 10. Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.
    Percy MJ, Crowley LJ, Davis CA, McMullin MF, Savage G, Hughes J, McMahon C, Quinn RJ, Smith O, Barber MJ, Lappin TR.
    Br J Haematol; 2005 Jun 15; 129(6):847-53. PubMed ID: 15953014
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  • 11. Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding.
    Percy MJ, Crowley LJ, Boudreaux J, Barber MJ.
    Arch Biochem Biophys; 2006 Mar 01; 447(1):59-67. PubMed ID: 16469290
    [Abstract] [Full Text] [Related]

  • 12. A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
    Arikoglu T, Yarali N, Kara A, Bay A, Bozkaya IO, Tunc B, Percy MJ.
    Pediatr Hematol Oncol; 2009 Mar 01; 26(5):381-5. PubMed ID: 19579085
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  • 13. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis.
    Aalfs CM, Salieb-Beugelaar GB, Wanders RJ, Mannens MM, Wijburg FA.
    Hum Mutat; 2000 Mar 01; 16(1):18-22. PubMed ID: 10874300
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  • 16. Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through.
    Leroux A, Leturcq F, Deburgrave N, Szajnert MF.
    Eur J Haematol; 2005 May 01; 74(5):389-95. PubMed ID: 15813912
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  • 19. [A novel point mutation in NADH-cytochrome b5 reductase gene].
    Wang Y, Wu Y, Yang W.
    Zhonghua Xue Ye Xue Za Zhi; 1999 Oct 01; 20(10):521-3. PubMed ID: 11721397
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  • 20. Heterogeneity of the molecular biology of methemoglobinemia: a study of eight consecutive patients.
    Maran J, Guan Y, Ou CN, Prchal JT.
    Haematologica; 2005 May 01; 90(5):687-9. PubMed ID: 15921385
    [Abstract] [Full Text] [Related]

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