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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal ne...

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal ne...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02349651v1

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Xavier Jeunemaitre, Jean-Jacques Schott and colleagues report mutations of
KLHL3
in familial hyperkalemic hypertension.
KLHL3
encodes a BTB-BACK-kelch family actin-binding protein and regulates cell surface localization of the NaNa
+
-Cl

cotransporter, a key regulator of ion resorption, at the distal nephron.
Familial h...

Alternative Titles

Full title

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_02349651v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02349651v1

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.2218