A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β- or γ-subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in αENaC. The proband was referred because of resistant hypokalemic hypertensio...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Am Soc Nephrol
Egile Nagusiak: Salih, Mahdi, Gautschi, Ivan, van Bemmelen, Miguel X., Di Benedetto, Michael, Brooks, Alice S., Lugtenberg, Dorien, Schild, Laurent, Hoorn, Ewout J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Nephrology 2017
Gaiak:
Basic Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5661275/
https://ncbi.nlm.nih.gov/pubmed/28710092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2016111163
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