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...

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Autors principals: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2013
Matèries:
Research Article
Accés en línia: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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