FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles

Fragile X syndrome (FXS) is caused by loss of the fragile X mental retardation gene protein product (FMRP) through promoter hypermethylation, which is usually associated with CGG expansion to full mutation size (>200 CGG repeats). Methylation-sensitive Southern blotting is the current gold standa...

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Hlavní autoři: Godler, David E., Slater, Howard R., Bui, Quang M., Ono, Michele, Gehling, Freya, Francis, David, Amor, David J., Hopper, John L., Hagerman, Randi, Loesch, Danuta Z.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2011
Témata:
Regular Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3157613/
https://ncbi.nlm.nih.gov/pubmed/21723415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2011.05.006
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