Cargando…
Tremor-Ataxia syndrome and primary ovarian insufficiency in anFMR1 premutation carrier
INTRODUCTION: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficienc...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Universidad del Valle
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687867/ https://www.ncbi.nlm.nih.gov/pubmed/29299012 http://dx.doi.org/10.25100/cm.v48i3.3019 |