Cargando…

Clinical and molecular implications of mosaicism in FMR1 full mutations

Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves hypermethylation of the FMR1 promoter region and gene silencing, resulting in absence of expression of the encoded protein, FMRP. However, mosaicis...

Descripción completa

Detalles Bibliográficos
Autores principales: Pretto, Dalyir, Yrigollen, Carolyn M., Tang, Hiu-Tung, Williamson, John, Espinal, Glenda, Iwahashi, Chris K., Durbin-Johnson, Blythe, Hagerman, Randi J., Hagerman, Paul J., Tassone, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166380/
https://www.ncbi.nlm.nih.gov/pubmed/25278957
http://dx.doi.org/10.3389/fgene.2014.00318

Ejemplares similares