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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Библиографические подробности
Главные авторы: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Формат: Artigo
Язык:Inglês
Опубликовано: Hindawi Publishing Corporation 2013
Предметы:
Research Article
Online-ссылка: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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