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A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia.
Shirabe K, Landi MT, Takeshita M, Uziel G, Fedrizzi E, Borgese N. Shirabe K, et al. Among authors: takeshita m. Am J Hum Genet. 1995 Aug;57(2):302-10. Am J Hum Genet. 1995. PMID: 7668255 Free PMC article.
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