Cargando…
Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients
Genetic defects in SHANK genes are associated with autism. Deletions and truncating mutations suggest haploinsufficiency for Shank3 as a major cause of disease which may be analyzed in appropriate Shank deficient mouse models. Here we will focus on the functional analysis of missense mutations found...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090658/ https://www.ncbi.nlm.nih.gov/pubmed/30131675 http://dx.doi.org/10.3389/fnmol.2018.00268 |