Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

The expansion of the specific trinucleotide sequence, [CTG], is the molecular pathological mechanism responsible for the clinical manifestations of DM1. Many studies have described different molecular genetic techniques to detect DM1, but as yet there is no data on the analytical performances of tec...

תיאור מלא

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מידע ביבליוגרפי
Main Authors: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
פורמט: Artigo
שפה:Inglês
יצא לאור: Hindawi Publishing Corporation 2013
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3665172/
https://ncbi.nlm.nih.gov/pubmed/23762868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/958510
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