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.

doi:10.1016/j.bbadis.2006.01.003

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Article

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.

Biochimica et biophysica acta - 1 Apr 2006

Lualdi Susanna, Di Rocco Maja, Corsolini Fabio, Spada Marco, Bembi Bruno, Cotugno Giovanna, Battini Roberta, Stroppiano Marina, Gabriela Pittis Maria, Filocamo Mirella

Abstract excerpt

The present study aimed to characterize mutant alleles in Mucopolysaccharidosis II and evaluate possible reduction of mRNA amount consequent to nonsense-mediated or nonstop mRNA decay pathways. A combination of different approaches, including real-time RT-PCR, were used to molecularly characterize seventeen patients. Fifteen alleles were identified and nine of them were new. The novel alleles consisted of three...

Topics

Alleles
Cells, Cultured
Child
Child, Preschool
Codon, Nonsense
Codon, Terminator
Frameshift Mutation
Genotype
Humans
Iduronic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Mucopolysaccharidosis II

Mutation, Missense

Phenotype

RNA Stability

RNA, Messenger

Reverse Transcriptase Polymerase Chain Reaction

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 16495038
DOI: 10.1016/j.bbadis.2006.01.003

Genes

Provenance

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