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A Rare Syndrome of GRID2 Deletion in 2 Siblings

The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotr...

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Detalles Bibliográficos
Autores principales: Veerapandiyan, Aravindhan, Enner, Stephanie, Thulasi, Venkatraman, Ming, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570108/
https://www.ncbi.nlm.nih.gov/pubmed/28856174
http://dx.doi.org/10.1177/2329048X17726168