Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

Fragile X Syndrome is caused by the expansion of an unstable CGG-repeat tract in the 5′-UTR of the FMR1 gene, which generally results in transcriptional silencing and consequent absence of the FMR1 protein. To date, the smallest premutation allele reported to expand to a full mutation allele in a si...

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Главные авторы: Fernandez-Carvajal, Isabel, Lopez Posadas, Blanca, Pan, Ruiqin, Raske, Christopher, Hagerman, Paul J., Tassone, Flora
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Investigative Pathology 2009
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Regular Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710706/
https://ncbi.nlm.nih.gov/pubmed/19525339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080174
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