CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable genetic heterogeneity and clinical variability. In...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, René J. M., Hoenderop, Joost G. J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2014
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3974678/
https://ncbi.nlm.nih.gov/pubmed/24699222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004267
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