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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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Investigative Pathology 2014
主題:
オンライン・アクセス: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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