Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development
Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar hypoplasia. ADAR enzymes are responsible for A-to-...
Main Author: | |
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Other Authors: | , , , , , , |
Format: | article |
Language: | eng |
Published: |
2015
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Subjects: | |
Online Access: | http://hdl.handle.net/10400.7/318 |
Country: | Portugal |
Oai: | oai:arca.igc.gulbenkian.pt:10400.7/318 |