Article
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.
Proceedings of the National Academy of Sciences of the United States of America - 26 May 1998
Garrett R M, Johnson J L, Graf T N, Feigenbaum A, Rajagopalan K V
Abstract excerpt
Sulfite oxidase catalyzes the terminal reaction in the degradation of sulfur amino acids. Genetic deficiency of sulfite oxidase results in neurological abnormalities and often leads to death at an early age. The mutation in the sulfite oxidase gene responsible for sulfite oxidase deficiency in a...
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