Chargement en cours...
UNSTABLE MUTATIONS IN THE FMR1 GENE AND THE PHENOTYPES
Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable (‘dynamic’) mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene. These expansions, termed ful...
Enregistré dans:
| Auteurs principaux: | , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2012
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4124039/ https://ncbi.nlm.nih.gov/pubmed/23560306 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|