Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: Putative mechanisms of tissue-dependent enzyme deficiency

We analyzed the NADH-cytochrome b5 reductase gene of hereditary methemoglobinemia type I and type III, by using PCR-related techniques. The mutation in type I is a guanine-to-adenine substitution in codon 57 of exon 3 of the NADH-cytochrome b5 reductase gene, and the sense of this codon is changed f...

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Detalhes bibliográficos
Main Authors: Katsube, Takanori, Sakamoto, Norihiro, Kobayashi, Yasushi, Seki, Ritsuko, Hirano, Masami, Tanishima, Kiyoh, Tomoda, Akio, Takazakura, Eisuke, Yubisui, Toshitsugu, Takeshita, Masazumi, Sakaki, Yoshiyuki, Fukumaki, Yasuyuki
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682939/
https://ncbi.nlm.nih.gov/pubmed/1707593
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