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

โœ Scribed by M. J. Percy; L. J. Crowley; C. A. Davis; M. F. McMullin; G. Savage; J. Hughes; C. McMahon; R. J. M. Quinn; O. Smith; M. J. Barber; T. R. J. Lappin


Book ID
108673214
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
196 KB
Volume
129
Category
Article
ISSN
0007-1048

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Molecular basis of recessive congenital
โœ Wilfried Kugler; Arnulf Pekrun; Petra Laspe; Bernhard Erdlenbruch; Max Lakomek ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB

Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)cytochrome b5 reductase (b5R) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5R gene of three unrelated patients with types I and II and found four novel muta