A novel missense mutation in the AVPR2 gene of a Japanese infant with nephrogenic diabetes insipidus

Journal of Pediatric Endocrinology and Metabolism

Volumn 23, Issue 4, 2010, Pages 415-418

  Takatani, Tomozumi ^a   Matsuo, Kaoru ^a   Kinoshita, Kaori ^a   Takatani, Rieko ^a   Minagawa, Masanori ^a   Kohno, Yoichi ^a  

^a CHIBA UNIVERSITY   (Japan)

Author keywords

Congenital nephrogenic diabetes insipidus; Missense mutation; V2 receptor gene; Vasopressin; Water deprivation test

Indexed keywords

ARGININE VASOPRESSIN RECEPTOR 2; ARGIPRESSIN; ARGIPRESSIN RECEPTOR; LEUCINE; PROLINE; SODIUM; SPIRONOLACTONE; TRICHLORMETHIAZIDE; TYROSINE; UNCLASSIFIED DRUG; VASOPRESSIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BODY WEIGHT; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DRUG WITHDRAWAL; FAILURE TO THRIVE; HUMAN; HYDROGEN BOND; HYPERNATREMIA; INFANT; JAPANESE; MALE; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; POTASSIUM BLOOD LEVEL; RECEPTOR GENE; SERUM OSMOLALITY; SIDE EFFECT; SODIUM URINE LEVEL; URINE OSMOLALITY; WATER DEPRIVATION; ASIAN; GENETICS;

ASIAN CONTINENTAL ANCESTRY GROUP; DIABETES INSIPIDUS, NEPHROGENIC; FAILURE TO THRIVE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; RECEPTORS, VASOPRESSIN; WATER DEPRIVATION;

EID: 77954679350     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2010.065     Document Type: Article

References (9)

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