A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome

Purpose Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes coding of the epithelial sodium channel – SCNN1A, SCNN1B and SCNN1G. It is characterised by early onset of hypertension and variable biochemical features such as hypokalaemia and low plasma concent...

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Autors principals:	Štěpán Mareš, Jan Filipovský, Kateřina Vlková, Martin Pešta, Václava Černá, Jaroslav Hrabák, Jitka Mlíková Seidlerová, Otto Mayer
Format:	Artigo
Idioma:	Inglês
Publicat:	Taylor & Francis Group 2021-09-01
Col·lecció:	Blood Pressure
Matèries:	aldosterone β-subunit enac hypertension liddle syndrome nonsense mutation scnn1b
Accés en línia:	http://dx.doi.org/10.1080/08037051.2021.1942785
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