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Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene

โœ Scribed by E. P. Owen; J. Berens; A. M. Marinaki; H. Ipp; E. H. Harley


Book ID
110224245
Publisher
Springer
Year
1997
Tongue
English
Weight
5 KB
Volume
20
Category
Article
ISSN
0141-8955

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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