- Tytuł:
-
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause
intellectual disability and developmental delay. - Autorzy:
- Źródło:
- PLoS genetics [PLoS Genet] 2018 Nov 30; Vol. 14 (11), pp. e1007671. Date of Electronic Publication: 2018 Nov 30 (Print Publication: 2018).
- Typ publikacji:
- Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Developmental Disabilities/*geneticsIntellectual Disability /*genetics
Mitochondrial Proteins/*genetics
Protein Interaction Domains and Motifs/*genetics
ral GTP-Binding Proteins/*genetics
ras Proteins/*genetics
Facies ; Genotype ; Guanosine Diphosphate/metabolism ; Guanosine Triphosphate/metabolism ; Humans ; Mitochondrial Proteins/chemistry ; Models, Molecular ; Mutation, Missense ; Phenotype ; Protein Conformation ; ral GTP-Binding Proteins/chemistry ; ras Proteins/chemistry
Czasopismo naukowe