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Journal Abstract Search

284 related items for PubMed ID: 18318771

  • 1. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
    Percy MJ, Lappin TR.
    Br J Haematol; 2008 May; 141(3):298-308. PubMed ID: 18318771
    [Abstract] [Full Text] [Related]

  • 2. 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 May; 36(1):81-90. PubMed ID: 16310381
    [Abstract] [Full Text] [Related]

  • 3. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
    Percy MJ, Aslan D.
    J Clin Pathol; 2008 Oct; 61(10):1122-3. PubMed ID: 18820099
    [Abstract] [Full Text] [Related]

  • 4. 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; 129(6):847-53. PubMed ID: 15953014
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 Nov 15; 26(5):381-5. PubMed ID: 19579085
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 41(1):50-5. PubMed ID: 18343696
    [Abstract] [Full Text] [Related]

  • 8. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.
    Kedar PS, Colah RB, Ghosh K, Mohanty D.
    Haematologia (Budap); 2002 Nov 15; 32(4):543-9. PubMed ID: 12803131
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 74(5):389-95. PubMed ID: 15813912
    [Abstract] [Full Text] [Related]

  • 10. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
    Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E.
    Brain; 2008 Mar 15; 131(Pt 3):760-1. PubMed ID: 18202104
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
    Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB.
    Clin Genet; 2015 May 15; 87(1):62-7. PubMed ID: 24266649
    [Abstract] [Full Text] [Related]

  • 13. 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 May 15; 40(3):323-7. PubMed ID: 17964195
    [Abstract] [Full Text] [Related]

  • 14. Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
    Deorukhkar A, Kulkarni A, Kedar P.
    Mol Biol Rep; 2022 Mar 15; 49(3):2141-2147. PubMed ID: 35064402
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. [Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia].
    Kobayashi Y.
    Fukuoka Igaku Zasshi; 1990 Jan 01; 81(1):41-7. PubMed ID: 2323714
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  • 18. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
    Kugler W, Pekrun A, Laspe P, Erdlenbruch B, Lakomek M.
    Hum Mutat; 2001 Apr 01; 17(4):348. PubMed ID: 11295830
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  • 20. The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site.
    Bewley MC, Davis CA, Marohnic CC, Taormina D, Barber MJ.
    Biochemistry; 2003 Nov 18; 42(45):13145-51. PubMed ID: 14609324
    [Abstract] [Full Text] [Related]

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