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Artículo
Emerging topics in FXTAS
(BioMed Central, 2014-07-30)
This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.
Artículo
Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model
(Multidisciplinary Digital Publishing Institute (MDPI), 2019-03-01)
The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for ...