Hansson, J H

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. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America Dec 1995 - 11495-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0027-8424

10.1073/pnas.92.25.11495 doi


Amino Acid Sequence
Animals
Base Sequence
Black People--genetics
Child
Epithelial Sodium Channels
Epithelium
Exons
Female
Humans
Hypertension--etiology
Male
Molecular Sequence Data
Mutagenesis
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Rats
Recombinant Proteins--biosynthesis
Sodium Channels--biosynthesis
Syndrome
Xenopus