Rs121908009

SULFITE OXIDASE DEFICIENCY, ISOLATED SUOX, GLY473ASP

In a cell line from a patient with isolated sulfite oxidase deficiency (272300), Kisker et al. (1997) found a G-to-A substitution at nucleotide 1418 of the cDNA of liver sulfite oxidase, resulting in a gly-to-asp substitution at amino acid 473.