Condition: RETINITIS PIGMENTOSA 73
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.
PMID 20583299 2010 Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
PMID 19823584 2009 Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
PMID 17033958 2006 Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
PMID 20825431 2011 Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
PMID 25859010 2015 Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
PMID 23301227 2013 The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.