Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de novo mutations in neuronally expressed genes are a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Lohmann, Katja, Masuho, Ikuo, Patil, Dipak N., Baumann, Hauke, Hebert, Eva, Steinrücke, Sofia, Trujillano, Daniel, Skamangas, Nickolas K., Dobricic, Valerija, Hüning, Irina, Gillessen-Kaesbach, Gabriele, Westenberger, Ana, Savic-Pavicevic, Dusanka, Münchau, Alexander, Oprea, Gabriela, Klein, Christine, Rolfs, Arndt, Martemyanov, Kirill A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6075543/
https://ncbi.nlm.nih.gov/pubmed/28087732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx018
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados