A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

Fragile X syndrome and associated disorders are characterized by the number of CGG repeats and methylation status of the FMR1 gene for which Southern blot (SB) historically has been required for analysis. This study describes a simple PCR-only workflow (mPCR) to replace SB analysis, that incorporate...

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Détails bibliographiques
Auteurs principaux: Grasso, Marina, Boon, Elles M.J., Filipovic-Sadic, Stela, van Bunderen, Patrick A., Gennaro, Elena, Cao, Ru, Latham, Gary J., Hadd, Andrew G., Coviello, Domenico A.
Format: Artigo
Langue:Inglês
Publié: American Society for Investigative Pathology 2014
Sujets:
Technical Advance
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873488/
https://ncbi.nlm.nih.gov/pubmed/24177047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.09.004
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