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CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.

Abstract:

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 we...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ebiom.2016.10.002

Authors


Fernandes-Rosa, FL More by this author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Beltrand, J More by this author
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French National Agency for Research More from this funder
French Medical Research Foundation More from this funder
French Hospital Clinical Research Program More from this funder
French National Institute of Health and Medical Research More from this funder
French Deputy Minister for Research and New Technologies More from this funder
Publisher:
Elsevier Publisher's website
Journal:
EBioMedicine Journal website
Volume:
13
Pages:
225-236
Publication date:
2016-10-05
Acceptance date:
2016-10-03
DOI:
EISSN:
2352-3964
Pubs id:
pubs:655143
URN:
uri:5cabad29-ef5f-4e60-bc09-a578a98aa640
UUID:
uuid:5cabad29-ef5f-4e60-bc09-a578a98aa640
Local pid:
pubs:655143

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