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Journal Abstract Search

303 related items for PubMed ID: 17964195

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  • 4. 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; 41(1):50-5. PubMed ID: 18343696
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  • 5. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families.
    Kedar PS, Colah RB, Ghosh K, Mohanty D.
    Haematologia (Budap); 2002; 32(4):543-9. PubMed ID: 12803131
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  • 6. Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
    Kedar PS, Gupta V, Warang P, Chiddarwar A, Madkaikar M.
    Hematology; 2018 Sep; 23(8):567-573. PubMed ID: 29482478
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  • 7. 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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  • 8. Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family.
    Kedar PS, Nadkarni AH, Phanasgoankar S, Madkaikar M, Ghosh K, Gorakshakar AC, Colah RB, Mohanty D.
    Am J Hematol; 2005 Jun; 79(2):168-70. PubMed ID: 15929117
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  • 9. 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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  • 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
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  • 12. NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.
    Percy MJ, Aslan D.
    J Clin Pathol; 2008 Oct 01; 61(10):1122-3. PubMed ID: 18820099
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  • 13. 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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  • 15. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
    Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB.
    Clin Genet; 2015 Apr 01; 87(1):62-7. PubMed ID: 24266649
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  • 17. 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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  • 18. 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
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  • 19. Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations.
    Kedar PS, Warang P, Ghosh K, Colah RB.
    Am J Hematol; 2011 Mar 15; 86(3):327-9. PubMed ID: 21328435
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  • 20. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
    Percy MJ, Lappin TR.
    Br J Haematol; 2008 May 15; 141(3):298-308. PubMed ID: 18318771
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