Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Disease gene discovery in neurodevelopmental disorders, including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing approaches. To date, more than 100 human X chromosome genes involved in neuronal signaling pathways and networks implicated in cog...

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Detalles Bibliográficos
Autores principales: Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707274/
https://www.ncbi.nlm.nih.gov/pubmed/26793055
http://dx.doi.org/10.3389/fnmol.2015.00085

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