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Article

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.

Neurobiology of disease - 1 Jul 2012

Camacho-Garcia Rafael J, Planelles Maria Inmaculada, Margalef Mar, Pecero Maria L, Martínez-Leal Rafael, Aguilera Francisco, Vilella Elisabet, Martinez-Mir Amalia, Scholl Francisco G

Abstract excerpt

The identification of mutations in genes encoding proteins of the synaptic neurexin-neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism. A few mutations have been described so far and for most of them the biological consequences are unknown. To further explore the role of the NRXN1β gene in...

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PMID: 22504536
DOI: 10.1016/j.nbd.2012.03.031

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