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Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia

โœ Scribed by Dorota Grabowska; Danuta Plochocka; Ewa Jablonska-Skwiecinska; Anna Chelstowska; Irmina Lewandowska; Krystyna Staniszewska; Zofia Majewska; Iwona Witos; Beata Burzynska


Book ID
114423231
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
685 KB
Volume
70
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