Lanean...
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,...
Gorde:
| Argitaratua izan da: | BMJ Case Rep |
|---|---|
| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Publishing Group
2020
|
| Gaiak: | |
| Sarrera elektronikoa: | 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 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|