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The FMR1 Gene and Fragile X-Associated Tremor/Ataxia Syndrome

The CGG-repeat present in the 5′UTR of the FMR1 gene is unstable upon transmission to the next generation. The repeat is up to 55 CGGs long in the normal population. In fragile X patients, a repeat length exceeding 200 CGGs (full mutation: FM) generally leads to methylation of the repeat and the pro...

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Detalles Bibliográficos
Publicado en:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Brouwer, J.R., Willemsen, R., Oostra, B.A.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4320942/
https://ncbi.nlm.nih.gov/pubmed/19105204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.30910
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