Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel β-subunit

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 1, 2005, Pages 340-344

  Furuhashi, Masato ^a   Kitamura, Kenichiro ^c   Adachi, Masataka ^c   Miyoshi, Taku ^c   Wakida, Naoki ^c   Ura, Nobuyuki ^a   Shikano, Yasukuni ^b   Shinshi, Yasuyuki ^a   Sakamoto, Ken Ichi ^b   Hayashi, Manabu ^b   Satoh, Naotoshi ^b   Nishitani, Takahiro ^b   Tomita, Kimio ^c   Shimamoto, Kazuaki ^a  

^a SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Obihiro Kosei Hospital   (Japan)

^c KUMAMOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMILORIDE; CAPTOPRIL; DEXAMETHASONE; PROLINE; SODIUM CHANNEL; SPIRONOLACTONE; TRIAMTERENE; VALSARTAN;

ADULT; ALPHA CHAIN; ANAMNESIS; ARTICLE; BETA CHAIN; CASE REPORT; CATECHOLAMINE BLOOD LEVEL; CLINICAL TRIAL; CORTICOSTERONE BLOOD LEVEL; CORTICOTROPIN BLOOD LEVEL; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPERTENSION; LIDDLE SYNDROME; MISSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; PROTEIN MOTIF; SITE DIRECTED MUTAGENESIS; XENOPUS;

ADULT; AGED; AMINO ACID MOTIFS; ANIMALS; CHILD; EPITHELIAL SODIUM CHANNEL; FEMALE; HUMANS; HYPERTENSION; MUTATION, MISSENSE; PROLINE; PROTEIN SUBUNITS; SODIUM CHANNELS; SYNDROME; XENOPUS;

EID: 19944429071     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1027     Document Type: Article

References (19)

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