Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms - Lualdi, Susanna; Di Rocco, Maja; Corsolini, Fabio; Spada, Marco; Bembi, Bruno; Cotugno, Giovanna; Battini, Roberta; Stroppiano, Marina; Pittis, Maria Gabriela; Filocamo, Mirella (Biochimica et biophysica acta, 2006)
Keywords: Alleles; Cells, Cultured; Child; Child, Preschool; Codon, Nonsense; Codon, Terminator; Frameshift Mutation; Genotype; Genotype–phenotype correlation; Humans; Hunter; IDS; Iduronic Acid - analogs & derivatives; Iduronic Acid - metabolism; Infant; mRNA decay; Mucopolysaccharidosis; Mucopolysaccharidosis II - genetics; Mutation, Missense; Phenotype; real-time RT-PCR; Reverse Transcriptase Polymerase Chain Reaction; RNA Stability; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Deletion; Hunter; IDS; Mucopolysaccharidosis; Genotype–phenotype correlation; real-time RT-PCR; mRNA decay