TY  - GEN
AU  - Hansson,J H
AU  - Schild,L
AU  - Lu,Y
AU  - Wilson,T A
AU  - Gautschi,I
AU  - Shimkets,R
AU  - Nelson-Williams,C
AU  - Rossier,B C
AU  - Lifton,R P
TI  - 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
SN  - 0027-8424
PY  - 1996///0124
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - Black People
KW  - genetics
KW  - Child
KW  - Epithelial Sodium Channels
KW  - Epithelium
KW  - Exons
KW  - Female
KW  - Humans
KW  - Hypertension
KW  - etiology
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutagenesis
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Rats
KW  - Recombinant Proteins
KW  - biosynthesis
KW  - Sodium Channels
KW  - Syndrome
KW  - Xenopus
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1073/pnas.92.25.11495
ER  -