Sass(Jörn Oliver),Gunduz(Aysegul),Araujo R... Brain Dev 2010-10-08

...MOCS2, MOCS3 and GEPH and result in combined deficiencies of the enzymes sulfite oxidase, xanthine dehydrogenase and ald...

Gümüş(Hakan),Ghesquiere(Stijn),Per(Hüseyin... Dev Med Child Neurol 2010-09-27

...MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual in...

Per(Hüseyin),Gümüş(Hakan),Ichida(Kimiyoshi... Brain Dev 2007-07-24

...MOCS2 gene from the infant.

Ichida(K),Aydin(H Ibrahim),Hosoyamada(M),K... Nucleosides Nucleotides Nuc... 2007-01-23

...MOCS2 gene, MOCS3 gene and GEPH gene. We homozygously identified the CGA insertion after A666 of the MOCS1 gene which pr...

Hahnewald(Rita),Leimkühler(Silke),Vilaseca... Mol Genet Metab 2006-12-13

...MOCS2A and MOCS2B), are both encoded by the MOCS2 gene in overlapping and shifted open reading frames (ORFs), which is a...

Leimkühler(Silke),Charcosset(Mathilde),Lat... Hum Genet 2005-11-10

...MOCS2, MOCS3 and GEPH). This disorder is caused almost exclusively by mutations in the MOCS1 or MOCS2 genes. Mutations a...

Reiss(Jochen),Johnson(Jean L) Hum Mutat 2003-09-03

...MOCS2, MOCS3, and GEPH). Disease-causing mutations have been identified in three of these genes: MOCS1, MOCS2, and GEPH....

Johnson(Jean L) Prenat Diagn 2003-07-02

...MOCS2 or GEPH, in cases of molybdenum cofactor deficiency, or SUOX in patients with isolated sulfite oxidase deficiency.

Hänzelmann(Petra),Schwarz(Gunter),Mendel(R... J Biol Chem 2002-06-24

...mocs2) that have been proposed to encode two separate proteins (A and B). In both cases, the A proteins share a highly c...

Reiss(J),Gross-Hardt(S),Christensen(E),Sch... Am J Hum Genet 2001-02-15

...MOCS2 mutations, which abrogate precursor conversion to molybdopterin. The present report describes the identification o...