Fibroblast phenotype in male carriers of FMR1 premutation alleles

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as various forms of clinical involvement in carrie...

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Bibliographic Details
Main Authors: Garcia-Arocena, Dolores, Yang, Jane E., Brouwer, Judith R., Tassone, Flora, Iwahashi, Christine, Berry-Kravis, Elizabeth M., Goetz, Christopher G., Sumis, Allison M., Zhou, Lili, Nguyen, Danh V., Campos, Luis, Howell, Erin, Ludwig, Anna, Greco, Claudia, Willemsen, Rob, Hagerman, Randi J., Hagerman, Paul J.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796892/
https://ncbi.nlm.nih.gov/pubmed/19864489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp497
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