Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Mol Neurosci
Autors principals: Hassani Nia, Fatemeh, Kreienkamp, Hans-Jürgen
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6090658/
https://ncbi.nlm.nih.gov/pubmed/30131675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2018.00268
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!