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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Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2017
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5344422/
https://ncbi.nlm.nih.gov/pubmed/28278294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0173279
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