CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

BACKGROUND: Greater than 200 CGG repeats in the 5′UTR of the FMR1 gene leads to epigenetic silencing and lack of the FMR1 protein, causing Fragile X Syndrome. Individuals carriers of a premutation (PM) allele with 55–200 CGG repeats are typically unmethylated and can present with clinical features d...

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Main Authors: Pretto, Dalyir I., Mendoza-Morales, Guadalupe, Lo, Joyce, Cao, Ru, Hadd, Andrew, Latham, Gary J., Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
Format: Artigo
Language:Inglês
Published: 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4010431/
https://ncbi.nlm.nih.gov/pubmed/24591415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-102021
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