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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Hindawi Publishing Corporation 2013
Gaiak:
Research Article
Sarrera elektronikoa: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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