(Q24671197)
Statements
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 (English)
K Shirabe
M T Landi
M Takeshita
G Uziel
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