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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » A » Amino Acid Substitution

Amino Acid Substitution

Your search returns 5 documents

  • 1.   Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

    This case report discusses a congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase

    Hematol J, Vol: 5 Page: 367-70 2004
    M. J. Percy; H. Oren; G. Savage; G. Irken

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  • 2.   Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding

    The aim of this study was to investigate the clinical disorder of recessive congenital methemoglobinemia

    Arch Biochem Biophys, Vol: 447 Page: 59-67 March 2006
    M. J. Percy; L. J. Crowley; J. Boudreaux; M. J. Barber

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  • 3.   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

    These case reports discuss a novel G to A mutation at position 15,635 in the DIAI gene of a 4-month-old baby that results in a glycine to serine substitution at codon 75 in the cytochrome b(5) reductase protein

    Blood Cells Mol Dis, Vol: 36 Page: 81-90 2006 Jan-Feb
    M. J. Percy; L. J. Crowley; D. Roper; T. J. Vulliamy; D. M. Layton; M. J. Barber

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  • 4.   Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system

    The aim of this study was to examine DNA variants in the RET gene in total intestinal aganglionosis patients using the WAVE DNA Fragment Analysis System

    J Pediatr Surg, Vol: 38 Page: 497-501 March 2003
    V. Solari; S. Ennis; A. Yoneda; L. Wong; A. Messineo; M. E. Hollwarth; A. Green; P. Puri

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  • 5.   The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

    This study aimed to examined the temperature sensitive of Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based (mass spectometry ) newborn screening

    Eur J Biochem, Vol: 271 Page: 4053-63 October 2004
    L. O'Reilly; P. Bross; T. J. Corydon; S. E. Olpin; J. Hansen; J. M. Kenney; S. E. McCandless; D. M. Frazier; V. Winter; N. Gregersen; P. C. Engel; B. S. Andresen

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