Načítá se...

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Liddle syndrome is a mendelian form of hypertension characterized by constitutively elevated renal Na reabsorption that can result from activating mutations in the beta or gamma subunit of the epithelial Na channel. All reported mutations have deleted the last 45-76 normal amino acids from the cytop...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Hansson, J H, Schild, L, Lu, Y, Wilson, T A, Gautschi, I, Shimkets, R, Nelson-Williams, C, Rossier, B C, Lifton, R P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC40428/
https://ncbi.nlm.nih.gov/pubmed/8524790
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!