A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in the
CLCN2
gene, encoding the voltage-gated ClC-2 chloride channel
1
, in a patient diagn...
Alternative Titles
Full title
A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
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TN_cdi_hal_primary_oai_HAL_inserm_02088868v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_inserm_02088868v1
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/s41588-018-0053-8
