A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Bremer, Sara

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants. [electronic resource] - Molecular genetics and metabolism Nov 2011 - 289-94 p. digital

Publication Type: Case Reports; Journal Article

1096-7206

10.1016/j.ymgme.2011.07.012 doi


Alternative Splicing--genetics
Base Sequence
Codon, Nonsense--genetics
DNA Mutational Analysis
Exons--genetics
Female
Frameshift Mutation--genetics
Gene Components
Glycosaminoglycans--urine
Humans
Iduronidase--genetics
Infant
Molecular Sequence Data
Mucopolysaccharidosis I--genetics
Norway
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Protein Isoforms--genetics