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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...

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Bibliografische gegevens
Gepubliceerd in:Front Mol Neurosci
Hoofdauteurs: Hassani Nia, Fatemeh, Kreienkamp, Hans-Jürgen
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2018
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Online toegang: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
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