The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
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| Title: | The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. |
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| Authors: | Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands., Koopal B; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Worthington JD; Greenwood Genetic Center, Greenwood, SC, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC, USA., Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands., Mientjes E; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, the Netherlands., Schulman H; Allosteros Therapeutics, Sunnyvale, CA, USA., Kushner SA; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands.; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, the Netherlands., Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, Nantes, France.; l'institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands. |
| Source: | Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2008-2024. Date of Electronic Publication: 2018 Sep 19. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.23647 |
