A carregar...
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature
TANK-binding kinase 1 (TBK1) mutations are a recently discovered cause of disorders in the frontotemporal dementia (FTD)–amyotrophic lateral sclerosis (ALS) spectrum. We describe a novel L683∗ mutation, predicted to cause a truncated protein and therefore be pathogenic, in a patient presenting with...
Na minha lista:
| Publicado no: | Neurobiol Aging |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7907669/ https://ncbi.nlm.nih.gov/pubmed/32980182 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2020.08.014 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|