Identification of a single cytosine base insertion mutation at Arg-597 of the β subunit of the human epithelial sodium channel in a family with Liddle's disease

European Journal of Endocrinology

Volumn 138, Issue 6, 1998, Pages 691-697

  Inoue, Toshihiko ^b,c   Okauchi, Yasuhiro ^b   Matsuzaki, Yasuyuki ^b   Kuwajima, Kazuko ^b   Kondo, Hideki ^b   Horiuchi, Noriaki ^b   Nakao, Katsuyuki ^b   Iwata, Masayasu ^b   Yokogoshi, Yutaka ^a   Shintani, Yasumi ^a   Bando, Hiroshi ^a   Saito, Shiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b Okawa General Hospital   (Japan)

^c Okawa General Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTERONE DERIVATIVE; DEXAMETHASONE; SPIRONOLACTONE; STEROID HORMONE; TETRAHYDROCORTISOL; TRIAMTERENE;

ADOLESCENT; ADULT; ALDOSTERONE BLOOD LEVEL; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DNA SEQUENCE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; JAPAN; LIDDLE SYNDROME; PHYSICAL EXAMINATION; PLASMA RENIN ACTIVITY; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; CYTOSINE; EPITHELIAL CELLS; FEMALE; GENES, DOMINANT; HUMANS; HYPERTENSION; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PEDIGREE; PEPTIDE FRAGMENTS; SODIUM CHANNELS; SYNDROME; WATER-ELECTROLYTE IMBALANCE;

EID: 17944402194     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1380691     Document Type: Article

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