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Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraX(TM) FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of t...

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Detalles Bibliográficos
Autores principales:	Lim, Grace X. Y., Yeo, Minli, Koh, Yvonne Y., Winarni, Tri Indah, Rajan-Babu, Indhu-Shree, Chong, Samuel S., Faradz, Sultana M. H., Guan, Ming
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5344422/ https://www.ncbi.nlm.nih.gov/pubmed/28278294 http://dx.doi.org/10.1371/journal.pone.0173279

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