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Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Fragile-X syndrome is a trinucleotide-repeat–expansion disorder in which the clinical phenotype is believed to result from transcriptional silencing of the fragile-X mental retardation 1 (FMR1) gene as the number of CGG repeats exceeds ∼200. For premutation alleles (∼55–200 repeats), no abnormalitie...

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Auteurs principaux: Tassone, Flora, Hagerman, Randi J., Taylor, Annette K., Gane, Louise W., Godfrey, Tony E., Hagerman, Paul J.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2000
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288349/
https://ncbi.nlm.nih.gov/pubmed/10631132
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