Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

BACKGROUND: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55–199 CGGs), is not uncommon. Importantl...

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Detalles Bibliográficos
Autores principales: Baker, Emma K., Arpone, Marta, Aliaga, Solange M., Bretherton, Lesley, Kraan, Claudine M., Bui, Minh, Slater, Howard R., Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499941/
https://www.ncbi.nlm.nih.gov/pubmed/31073396
http://dx.doi.org/10.1186/s13229-019-0271-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499941/
https://www.ncbi.nlm.nih.gov/pubmed/31073396
http://dx.doi.org/10.1186/s13229-019-0271-7

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