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Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test

Myotonic dystrophy type 1 is a multisystem disorder caused by the expansion of a trinucleotide repeat in the DMPK gene. In this study we evaluated the performance of the FastDM1(TM) DMPK sizing kit in myotonic dystrophy type 1 testing. This commercially available triplet repeat-primed PCR based kit...

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Detalles Bibliográficos
Autores principales:	Leferink, Maike, Wong, Daphne P. W., Cai, Shiwei, Yeo, Minli, Ho, Jocelin, Lian, Mulias, Kamsteeg, Erik-Jan, Chong, Samuel S., Haer-Wigman, Lonneke, Guan, Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547747/ https://www.ncbi.nlm.nih.gov/pubmed/31164682 http://dx.doi.org/10.1038/s41598-019-44588-3

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