The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Mutations in CAV3, coding for caveolin-3, the major constituent scaffolding protein of cardiac caveolae, have been associated with skeletal muscle disease, cardiomyopathy, and most recently long-QT syndrome (LQTS) and sudden infant death syndrome. We examined the occurrence of CAV3 mutations in a large cohort of patients with LQTS.
Originalsprog | Engelsk |
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Tidsskrift | Circulation: Cardiovascular Genetics |
Vol/bind | 6 |
Udgave nummer | 5 |
Sider (fra-til) | 452-61 |
Antal sider | 10 |
ISSN | 1942-325X |
DOI | |
Status | Udgivet - okt. 2013 |
ID: 101010476