Two sporadic cases of Liddle's syndrome caused by de novo ENaC mutations

American Journal of Kidney Diseases

Volumn 37, Issue 3, 2001, Pages 499-504

  Yamashita, Yumi ^a,b,c   Koga, Masafumi ^a,b,c   Takeda, Yasuhiro ^a,b,c   Enomoto, Mobuyuki ^a,b,c   Uchida, Shinichi ^a,b,c   Hashimoto, Kunihiko ^a,b,c   Yamano, Shigeru ^a,b,c   Dohi, Kazuhiro ^a,b,c   Marumo, Fumiaki ^a,b,c   Sasaki, Sei ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b Kinki Central Hospital of Mutual Association of Public School Teachers   (Japan)

^c NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

Hereditary disease; Hypertension; Kidney; Liddle's syndrome; Sodium channel

Indexed keywords

DEXAMETHASONE; SODIUM CHANNEL; SPIRONOLACTONE; TRIAMTERENE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE; HUMAN; HYPERTENSION; KIDNEY DISEASE; LIDDLE SYNDROME; MALE; SEQUENCE ANALYSIS;

EID: 0035123959     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/ajkd.2001.22072     Document Type: Article

References (14)

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5. Epithelial sodium channel related to proteins involved in neurodegeneration
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8. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome, identifying a proline-rich segment critical for regulation of channel activity
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14. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na channel deleted in Liddle's syndrome