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...
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| Udgivet i: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
1995
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC40428/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8524790/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.25.11495 |
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