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.
Am J Hum Genet. 1995 Aug;57(2):302-10. Am J Hum Genet. 1995. PMID: 7668255 Free PMC article.