Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR

Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease caused by expansion of a CTG trinucleotide repeat in the DMPK gene. Methodology for genetic testing of DM1 is currently not optimal, in particular for the early-onset patients in pediatric populations where large expanded...

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Detalles Bibliográficos
Autores principales: Singh, Susmita, Zhang, Amy, Dlouhy, Stephen, Bai, Shaochun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006065/
https://www.ncbi.nlm.nih.gov/pubmed/24795756
http://dx.doi.org/10.3389/fgene.2014.00094

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