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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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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | 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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