An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

(CGG)(n) repeat expansion in the FMR1 gene is associated with fragile X syndrome and other disorders. Current methods for FMR1 molecular testing rely on Southern blot analysis to detect expanded alleles too large to be PCR-amplified and to identify female homozygous alleles that often confound inter...

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Главные авторы: Chen, Liangjing, Hadd, Andrew, Sah, Sachin, Filipovic-Sadic, Stela, Krosting, Julie, Sekinger, Edward, Pan, Ruiqin, Hagerman, Paul J., Stenzel, Timothy T., Tassone, Flora, Latham, Gary J.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Investigative Pathology 2010
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Regular Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2928422/
https://ncbi.nlm.nih.gov/pubmed/20616364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2010.090227
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