Clinical and molecular implications of mosaicism in FMR1 full mutations

Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves hypermethylation of the FMR1 promoter region and gene silencing, resulting in absence of expression of the encoded protein, FMRP. However, mosaicis...

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Bibliographische Detailangaben
Hauptverfasser: Pretto, Dalyir, Yrigollen, Carolyn M., Tang, Hiu-Tung, Williamson, John, Espinal, Glenda, Iwahashi, Chris K., Durbin-Johnson, Blythe, Hagerman, Randi J., Hagerman, Paul J., Tassone, Flora
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2014
Schlagworte:
Pediatrics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4166380/
https://ncbi.nlm.nih.gov/pubmed/25278957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2014.00318
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