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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2008
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Article
Länkar: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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