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Rearrangements in the flanking sequences of the triplet repeat of the FMR1 gene give clues to the mechanisms involved in repeat instability in fragile X

โœ Scribed by Tarja Mononen; Harriet von Koskull; Raija-Liisa Airaksinen; Vesa Juvonen


Book ID
113567950
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
105 KB
Volume
7
Category
Article
ISSN
1568-7864

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The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5 untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absence of production of FMR1 protein (FMRP). Such expans