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Fragile X- associated Tremor/Ataxia Syndrome (FXTAS) in Grey Zone Carriers

The grey zone (GZ; 45–54 CGG repeats in the FMR1 gene) is considered a normal allele, however several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of FXTAS in two carriers of GZ alleles, although FXTAS has been defined as occur...

詳細記述

保存先:
書誌詳細
出版年:Clin Genet
主要な著者: Liu, Ying, Winarni, Tri Indah, Zhang, Lin, Tassone, Flora, Hagerman, Randi J
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4991824/
https://ncbi.nlm.nih.gov/pubmed/23009394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12026
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