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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815463/
https://www.ncbi.nlm.nih.gov/pubmed/31655555
http://dx.doi.org/10.1186/s12882-019-1579-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815463/
https://www.ncbi.nlm.nih.gov/pubmed/31655555
http://dx.doi.org/10.1186/s12882-019-1579-4

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