Article
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
EBioMedicine - 1 Nov 2016
Daniil Georgios, Fernandes-Rosa Fabio L, Chemin Jean, Blesneac Iulia, Beltrand Jacques, Polak Michel, Jeunemaitre Xavier, Boulkroun Sheerazed, Amar Laurence, Strom Tim M, Lory Philippe, Zennaro Maria-Christina
Abstract excerpt
Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A recurrent mutation in CACNA1H (coding for Cav3.2) was identified in a familial form of early onset PA. Here we performed whole exome sequencing (WES) in patients with different types of PA to identify...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.