Bremer, Sara <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2011.07.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing--genetics<br/>Base Sequence<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Frameshift Mutation--genetics<br/>Gene Components<br/>Glycosaminoglycans--urine<br/>Humans<br/>Iduronidase--genetics<br/>Infant<br/>Molecular Sequence Data<br/>Mucopolysaccharidosis I--genetics<br/>Norway<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Polymorphism, Restriction Fragment Length<br/>Protein Isoforms--genetics