Characterization of a novel mutation in the NADH-cytochrome b5 reductase gene responsible for rare hereditary methaemoglobinaemia type I.

Authors :: Rawa K
Chelmecka-Hanusiewicz L
Plochocka D
Pawinska-Wasikowska K
Balwierz W
Burzynska B
Source :: Acta haematologica [Acta Haematol] 2013; Vol. 130 (2), pp. 122-5. Date of Electronic Publication: 2013 Apr 13.
Publication Year :: 2013

Subjects :: Child, Preschool
Cytochrome-B(5) Reductase chemistry
Cytochrome-B(5) Reductase metabolism
Homozygote
Humans
Male
Methemoglobinemia genetics
Pedigree
Polymorphism, Single Nucleotide
Protein Structure, Tertiary
Cytochrome-B(5) Reductase genetics
Methemoglobinemia diagnosis

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