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Methylation mosaicism of 5′-(CGG)(n)-3′ repeats in fragile X, premutation and normal individuals

Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5′-(CGG)(n)-3′ repeat in the promoter and 5′-untranslated region (5′-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hype...

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Bibliografiset tiedot
Julkaisussa:Nucleic Acids Res
Päätekijät: Genç, Bülent, Müller-Hartmann, Herbert, Zeschnigk, Michael, Deissler, Heidrun, Schmitz, Birgit, Majewski, Frank, von Gontard, Alexander, Doerfler, Walter
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2000
Aiheet:
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC105369/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10773084/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/28.10.2141
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