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Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through

โœ Scribed by Alena Leroux; France Leturcq; Nathalie Deburgrave; Marie-France Szajnert


Book ID
114792791
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
261 KB
Volume
74
Category
Article
ISSN
0902-4441

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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