Expanded Clinical Phenotype of Women With the FMR1 Premutation

Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well char...

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Main Authors: Coffey, Sarah M., Cook, Kylee, Tartaglia, Nicole, Tassone, Flora, Nguyen, Danh V., Pan, Ruiqin, Bronsky, Hannah E., Yuhas, Jennifer, Borodyanskaya, Mariya, Grigsby, Jim, Doerflinger, Melanie, Hagerman, Paul J., Hagerman, Randi J.
Format: Artigo
Jezik:Inglês
Izdano: 2008
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2888464/
https://ncbi.nlm.nih.gov/pubmed/18348275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32060
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