Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

Myotonic dystrophy type 2 (DM2, OMIM #602688) is a multisystemic hereditary degenerative disease caused by a tetranucleotide CCTG expansion in the ZNF9 gene. Routine testing strategies for DM2 require the use of Southern blot or long-range PCR, but the presence of very large expansions and wide soma...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Catalli, Claudio, Morgante, Alessandra, Iraci, Raniero, Rinaldi, Fabrizio, Botta, Annalisa, Novelli, Giuseppe
Format: Artigo
Langue:Inglês
Publié: American Society for Investigative Pathology 2010
Sujets:
Regular Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928423/
https://ncbi.nlm.nih.gov/pubmed/20616365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090239
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