present in Gene: SUOX
present in Chromosome: 12
Position on Chromosome: 56004039
Alleles of this Variant: G/A
rs121908007 in
SUOX gene and
Sulfocysteinuria
PMID 9600976 1998 Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.
PMID 10519592 1999 Isolated sulfite oxidase deficiency: review of two cases in one family.
PMID 12368985 2002 A novel mutation in neonatal isolated sulphite oxidase deficiency.
PMID 12112661 2002 Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
PMID 9428520 1997 Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase.