CACNA1H mutations are associated with different forms of primary aldosteronism
G Daniil, FL Fernandes-Rosa, J Chemin, I Blesneac… - …, 2016 - thelancet.com
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 new susceptibility genes.
Four different heterozygous germline CACNA1H variants were identified. A de novo Cav3. 2 …
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 new susceptibility genes.
Four different heterozygous germline CACNA1H variants were identified. A de novo Cav3. 2 …
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