Condition: Sulfocysteinuria
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.
PMID 24938149 2014 Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion.
PMID 23994568 2013 Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
PMID 28629418 2017 Prenatal brain disruption in isolated sulfite oxidase deficiency.
PMID 15952210 2005 Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.