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...

書目詳細資料
Main Authors:	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
格式:	Article
語言:	English
出版:	Frontiers Media S.A. 2016-01-01
叢編:	Frontiers in Molecular Neuroscience
主題:	ArfGEF BRAG1 IQ-ArfGEF IQSEC2 MRX78 XLID
在線閱讀:	https://www.frontiersin.org/article/10.3389/fnmol.2015.00085/full

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