Article
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Human mutation - 1 Jul 2009
Azad Abul Kalam, Rauh Robert, Vermeulen François, Jaspers Martine, Korbmacher Judit, Boissier Brigitte, Bassinet Laurence, Fichou Yann, des Georges Marie, Stanke Frauke, De Boeck Kris, Dupont Lieven, Balascáková Miroslava, Hjelte Lena, Lebecque Patrick, Radojkovic Dragica, Castellani Carlo, Schwartz Marianne, Stuhrmann Manfred, Schwarz Martin, Skalicka Veronika, de Monestrol Isabelle, Girodon Emmanuelle, Férec Claude, Claustres Mireille, Tümmler Burkhard, Cassiman Jean-Jacques, Korbmacher Christoph, Cuppens Harry
Abstract excerpt
We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in SCNN1A. More importantly, a more than three-fold significant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.