Wird geladen...

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Front Mol Neurosci
Hauptverfasser: Hassani Nia, Fatemeh, Kreienkamp, Hans-Jürgen
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018
Schlagworte:
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!