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.