present in Gene: CLTA;GNE
present in Chromosome: 9
Position on Chromosome: 36234105
Alleles of this Variant: C/T
rs121908622 in
CLTA;GNE gene and
Sialuria
PMID 10330343 1999 Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
PMID 10356312 1999 Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
PMID 2808337 1989 Identification of the metabolic defect in sialuria.
PMID 11326336 2001 Dominant inheritance of sialuria, an inborn error of feedback inhibition.