FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene
Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands upstream of the CGG repeats. Here, we describe two unre...
Na minha lista:
| Principais autores: | , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2018-11-01
|
| coleção: | Frontiers in Genetics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/article/10.3389/fgene.2018.00442/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|