A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

Proceedings of the National Academy of Sciences of the United States of America

Volumn 92, Issue 25, 1995, Pages 11495-11499

  Hansson, Joni H ^a,b   Schild, Laurent ^c   Lu, Yin ^a,b   Wilson, Thomas A ^d   Gautschi, Ivan ^c   Shimkets, Richard ^a,b   Nelson Williams, Carol ^a,b   Rossier, Bernard C ^c   Lifton, Richard P ^a,b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROLINE; SODIUM CHANNEL;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; HYPERTENSION; MALE; NONHUMAN; PRIORITY JOURNAL; SCHOOL CHILD; SODIUM ABSORPTION; XENOPUS;

AFRICAN CONTINENTAL ANCESTRY GROUP; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; EPITHELIAL SODIUM CHANNEL; EPITHELIUM; EXONS; FEMALE; HUMANS; HYPERTENSION; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RATS; RECOMBINANT PROTEINS; SODIUM CHANNELS; SYNDROME; XENOPUS;

ANIMALIA;

EID: 0029586683     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.92.25.11495     Document Type: Article

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