A novel mutation in the β-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 1, 2009, Pages 85-89

  Sawathiparnich, Pairunyar ^a   Sumboonnanonda, Achra ^b   Weerakulwattana, Praewvarin ^a   Limwongse, Chanin ^c  

^a MAHIDOL UNIVERSITY   (Thailand)

^b MAHIDOL UNIVERSITY   (Thailand)

^c THAMMASAT UNIVERSITY   (Thailand)

Author keywords

Hypokalemia; Liddle's syndrome; Pseudoaldosteronism; SCNN1B; Secondary hypertension

Indexed keywords

ALDOSTERONE; AMILORIDE; AMILORIDE PLUS HYDROCHLOROTHIAZIDE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; PROLINE; SODIUM CHANNEL; SODIUM CHLORIDE; TRIAMTERENE; WATER;

ADOLESCENT; ALDOSTERONE RELEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BETA CHAIN; CARBOXY TERMINAL SEQUENCE; CARDIOVASCULAR DISEASE; CASE REPORT; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; HUMAN; HYPERTENSION; HYPOKALEMIA; INTERNALIZATION; KIDNEY TUBULE ABSORPTION; LIDDLE SYNDROME; MISSENSE MUTATION; PENETRANCE; PLASMA RENIN ACTIVITY; PROTEIN DOMAIN; PROTEIN MOTIF; THAILAND; WATER ABSORPTION;

ADOLESCENT; ADULT; BASE SEQUENCE; CARDIOVASCULAR DISEASES; DNA MUTATIONAL ANALYSIS; EPITHELIAL SODIUM CHANNEL; FAMILY; FEMALE; HUMANS; HYPERTENSION; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PROLINE-RICH PROTEIN DOMAINS; SYNDROME; THAILAND;

EID: 61849180755     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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