MAP1B mutations cause intellectual disability and extensive white matter deficit
MAP1B mutations cause intellectual disability and extensive white matter deficit
About this item
Full title
Author / Creator
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 and Stefansson, Kari
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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
(
MAP1B
) that associates with ID/low IQ...
Alternative Titles
Full title
MAP1B mutations cause intellectual disability and extensive white matter deficit
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d70b7d7d8ac24f859136afd1d51a5234
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d70b7d7d8ac24f859136afd1d51a5234
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-05595-6
