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