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Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

Mutations in beta or gamma subunit of the epithelial sodium channel (ENaC) have been found to cause a hereditary form of human hypertension, Liddle syndrome. Most of the mutations reported are either nonsense mutations or frame shift mutations which would truncate the cytoplasmic carboxyl terminus o...

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Bibliografski detalji
Glavni autori: Tamura, H, Schild, L, Enomoto, N, Matsui, N, Marumo, F, Rossier, B C
Format: Artigo
Jezik:Inglês
Izdano: 1996
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC507244/
https://ncbi.nlm.nih.gov/pubmed/8601645
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