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A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia

โœ Scribed by Prabhakar S. Kedar; Prashant Warang; Anita H. Nadkarni; Roshan B. Colah; Kanjaksha Ghosh


Book ID
116304467
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
663 KB
Volume
40
Category
Article
ISSN
1079-9796

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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