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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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| Publicado no: | Front Mol Neurosci |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2018
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| Assuntos: | |
| Acesso em linha: | 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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