MAP1B mutations cause intellectual disability and extensive white matter deficit

Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MA...

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Detalles Bibliográficos
Autores principales: Walters, G. Bragi, Gustafsson, Omar, Sveinbjornsson, Gardar, Eiriksdottir, Valgerdur K., Agustsdottir, Arna B., Jonsdottir, Gudrun A., Steinberg, Stacy, Gunnarsson, Arni F., Magnusson, Magnus I., Unnsteinsdottir, Unnur, Lee, Amy L., Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Jonasdottir, Aslaug, Skuladottir, Astros, Jonsson, Lina, Nawaz, Muhammad S., Sulem, Patrick, Frigge, Mike, Ingason, Andres, Love, Askell, Norddhal, Gudmundur L., Zervas, Mark, Gudbjartsson, Daniel F., Ulfarsson, Magnus O., Saemundsen, Evald, Stefansson, Hreinn, Stefansson, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110722/
https://www.ncbi.nlm.nih.gov/pubmed/30150678
http://dx.doi.org/10.1038/s41467-018-05595-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110722/
https://www.ncbi.nlm.nih.gov/pubmed/30150678
http://dx.doi.org/10.1038/s41467-018-05595-6

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