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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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Κύριοι συγγραφείς:	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.
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	2008
Θέματα:	Article
Διαθέσιμο Online:	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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Expanded Clinical Phenotype of Women With the FMR1 Premutation

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