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Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India()

DM1 is caused by CTG repeat expansion in the 3′-UTR of the DMPK gene. DM1 patients have expansions of greater than 50 repeats and up to many thousands. The intention of the present study is the establishment of reliable and rapid polymerase chain reaction methodology in early screening of DM1 patien...

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Detalles Bibliográficos
Autores principales: Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287798/
https://www.ncbi.nlm.nih.gov/pubmed/25606394
http://dx.doi.org/10.1016/j.mgene.2013.12.001