Kazem Hasanpour
Department of Clinical Sciences, Sabzevar University of Medical Sciences, Sabzevar, Iran.
[ 1 ] - The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...
نویسندگان همکار