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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Detalhes bibliográficos
Main Authors: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2013
Assuntos:
Research Article
Acesso em linha: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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