present in Gene: HGSNAT
present in Chromosome: 8
Position on Chromosome: 43170690
Alleles of this Variant: A/-
rs1085307880 in
HGSNAT gene and
MPS III C
PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
rs1085307880 in
HGSNAT gene and
RETINITIS PIGMENTOSA 73
PMID 17397050 2007 Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
PMID 19479962 2009 Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.