
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Keywords: Cq; quantification cycles; DS; dermatan sulfate; ERT; enzyme replacement therapy; GAGs; glycosaminoglycans; HSCT; hematopoietic stem cell transplantation; HS; heparan sulfate; IDUA; α-l-iduronidase; MPS I; mucopolysaccharidosis type I; PTC; premature ter