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Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report

BACKGROUND: Liddle syndrome is a monogenic disease with autosomal dominant inheritance. Basic characteristics of this disease are hypertension, reduced concentration of aldosterone and renin activity, as well as increased excretion of potassium leading to low level of potassium in serum and metaboli...

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Pubblicato in:BMC Nephrol
Autori principali: Kozina, Anastasiya A., Trofimova, Tatiana A., Okuneva, Elena G., Baryshnikova, Natalia V., Obuhova, Varvara A., Krasnenko, Anna Yu., Tsukanov, Kirill Yu., Klimchuk, Olesya I., Surkova, Ekaterina I., Shatalov, Peter A., Ilinsky, Valery V.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6815463/
https://ncbi.nlm.nih.gov/pubmed/31655555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1579-4
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