Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2694-2700

  Lin, Shih Hua ^a   Bichet, Daniel G ^a,b   Sasaki, Sei ^b   Kuwahara, Michio ^c   Arthus, Marie Francoise ^b   Lonergan, Michele ^b   Lin, Yuh Feng ^c  

^a TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^b HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; COMPLEMENTARY RNA; DESMOPRESSIN; VASOPRESSIN; VASOPRESSIN V2 RECEPTOR;

ADULT; ANIMAL CELL; ANIMAL TISSUE; AQP2 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING; CASE REPORT; CHINESE; CONGENITAL DISORDER; CONTROLLED STUDY; FEMALE; GENE ISOLATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTENSION; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; INFANT; KIDNEY COLLECTING TUBULE; MALE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; WATER PERMEABILITY; WILD TYPE; XENOPUS;

ANIMALIA;

EID: 0036072290     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.6.8617     Document Type: Article

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