A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants. [electronic resource]
Producer: 20120228Description: 289-94 p. digitalISSN:- 1096-7206
- 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
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Publication Type: Case Reports; Journal Article
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