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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: borgese n. Am J Hum Genet. 1995 Aug;57(2):302-10. Am J Hum Genet. 1995. PMID: 7668255 Free PMC article.
Two transcripts encode rat cytochrome b5 reductase.
Pietrini G, Carrera P, Borgese N. Pietrini G, et al. Among authors: borgese n. Proc Natl Acad Sci U S A. 1988 Oct;85(19):7246-50. doi: 10.1073/pnas.85.19.7246. Proc Natl Acad Sci U S A. 1988. PMID: 3174630 Free PMC article.
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