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...

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Detalles Bibliográficos
Autores principales: Saldarriaga-Gil, Wilmar, Rodriguez-Guerrero, Tatiana, Fandiño-Losada, Andres, Ramirez-Cheyne, Julian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2017
Materias:
Case Report
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

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