Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes

Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. In particular, the expansions of the CGG-repeats stretch at the 5’-UTR of the Fragile X Mental Retardation 1 (FMR1) gene have pleiotropic effects that lead to a variety of Fragile X-a...

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Detalles Bibliográficos
Autores principales: Valor, Luis M., Morales, Jorge C., Hervás-Corpión, Irati, Marín, Rosario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395059/
https://www.ncbi.nlm.nih.gov/pubmed/34445074
http://dx.doi.org/10.3390/ijms22168368

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395059/
https://www.ncbi.nlm.nih.gov/pubmed/34445074
http://dx.doi.org/10.3390/ijms22168368

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