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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » C » Crystallography, X-Ray

Crystallography, X-Ray

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  • 1.   Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase

    This case report 2 mutations, E255- and G291D, identified in the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r in previously reported patients, and detection of a further novel mutation, D239G, in this lobe in two unrelated Irish families

    Br J Haematol, Vol: 129 Page: 847-53 June 2005
    M. J. Percy; L. J. Crowley; C. A. Davis; M. F. McMullin; G. Savage; J. Hughes; C. McMahon; R. J. Quinn; O. Smith; M. J. Barber; T. R. Lappin

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