A carregar...
Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome
Andersen-Tawil syndrome (ATS) is a rare channelopathy, sometimes referred to as long QT syndrome type 7. ATS is an autosomal dominant disease predominantly caused by mutations in the KCNJ2 gene. Patients with ATS present with episodes of muscle weakness, arrythmias, including prolonged QT intervals,...
Na minha lista:
| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7449271/ https://ncbi.nlm.nih.gov/pubmed/32843460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-235703 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|