Cargando…
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations
The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this rev...
Autores principales: | Guerreiro, Rita, Brás, José, Hardy, John, Singleton, Andrew |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170717/ https://www.ncbi.nlm.nih.gov/pubmed/24794858 http://dx.doi.org/10.1093/hmg/ddu203 |
Ejemplares similares
-
Using next‐generation sequencing to redefine BRCAness in triple‐negative breast cancer
por: Lin, Po‐Han, et al.
Publicado: (2020) -
Redefining infantile-onset multisystem phenotypes of coenzyme Q(10)-deficiency in the next-generation sequencing era
por: Berardo, Andres, et al.
Publicado: (2020) -
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
por: Németh, Andrea H., et al.
Publicado: (2013) -
A nonsense mutation in PRNP associated with clinical Alzheimer's disease()
por: Guerreiro, Rita, et al.
Publicado: (2014) -
Next generation sequencing for neurological diseases: New hope or new hype?
por: Keogh, M.J., et al.
Publicado: (2013)