A carregar...
Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In additio...
Na minha lista:
| Publicado no: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4799871/ https://ncbi.nlm.nih.gov/pubmed/27066515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.196 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|