Novel mutation of Aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus

Endocrine Journal

Volumn 56, Issue 7, 2009, Pages 905-910

  Moon, Seong Su ^a   Kim, Han Jong ^a   Choi, Yeon Kyung ^a   Seo, Hyun Ae ^a   Jeon, Jae Han ^a   Lee, Jung Eun ^a   Lee, Ju Young ^a   Kwon, Tae Hwan ^b   Kim, Jung Guk ^a   Kim, Bo Wan ^a   Lee, In Kyu ^a,b,c  

^a Kyungpook National University Hospital   (South Korea)

^b Kyungpook National University School of Medicine   (South Korea)

^c Kyungpook National University   (South Korea)

Author keywords

Aquaporin 2; Congenital nephrogenic diabetes insipidus; Missense mutation; Polyuria; Renal biopsy

Indexed keywords

AMILORIDE; AQUAPORIN 2; ARGIPRESSIN; HYDROCHLOROTHIAZIDE; IMMUNOGLOBULIN A;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; ELECTRON MICROSCOPY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IMMUNOPEROXIDASE STAINING; KIDNEY BIOPSY; LABORATORY TEST; MALE; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POLYURIA; URINARY EXCRETION; URINE OSMOLALITY; WATER DEPRIVATION;

ADOLESCENT; AQUAPORIN 2; ARGININE VASOPRESSIN; BASE SEQUENCE; DIABETES INSIPIDUS, NEPHROGENIC; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE;

EID: 70350645293     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K09E-078     Document Type: Article

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