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

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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Détails bibliographiques
Auteurs principaux: Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, Hao Hu, Stefan A. Haas, Maya Topf, A. Jeannette M. Hoogeboom, Kirsten Harvey, Randall Walikonis, Robert J. Harvey
Format: Article
Langue:English
Publié: Frontiers Media S.A. 2016-01-01
Collection:Frontiers in Molecular Neuroscience
Sujets:
ArfGEF
BRAG1
IQ-ArfGEF
IQSEC2
MRX78
XLID
Accès en ligne:https://www.frontiersin.org/article/10.3389/fnmol.2015.00085/full

Internet

https://www.frontiersin.org/article/10.3389/fnmol.2015.00085/full

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