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]
Producer: 19960124Description: 11495-9 p. digitalISSN:- 0027-8424
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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