Differential increases of specific FMR1 mRNA isoforms in premutation carriers

BACKGROUND: Over 40% of males and ~16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop Fragile X associated Tremor/Ataxia Syndrome (FXTAS), an adult onset neurodegenerative disorder while, about 20% of female carriers will develop Fragile X-associated Primary Ovaria...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Pretto, Dalyir I., Eid, John S., Yrigollen, Carolyn M., Tang, Hiu-Tung, Loomis, Erick W., Raske, Chris, Durbin-Johnson, Blythe, Hagerman, Paul J., Tassone, Flora
Format: Artigo
Language:Inglês
Published: 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4394606/
https://ncbi.nlm.nih.gov/pubmed/25358671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102593
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