Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus

American Journal of Human Genetics

Volumn 69, Issue 4, 2001, Pages 738-748

  Kuwahara, Michio ^a   Iwai, Kazuyuki ^c   Ooeda, Toru ^d   Igarashi, Takashi ^b   Ogawa, Eishin ^e   Katsushima, Yuriko ^e   Shinbo, Itsuki ^a   Uchida, Shinichi ^a   Terada, Yoshio ^a   Arthus, Marie Francoise ^f   Lonergan, Michele ^f   Fujiwara, T M ^g   Bichet, Daniel G ^f   Marumo, Fumiaki ^a   Sasaki, Sei ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c Fukui Prefecture Mental Health Center   (Japan)

^d CHIBA UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY   (Japan)

^f HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^g MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; GENE PRODUCT; OLIGOMER;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CELL MEMBRANE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; KIDNEY CONCENTRATING CAPACITY; KIDNEY TUBULE CELL; MAJOR CLINICAL STUDY; MALE; NEPHROGENIC DIABETES INSIPIDUS; NUCLEOTIDE SEQUENCE; OOCYTE; PREDICTION; PRIORITY JOURNAL; XENOPUS;

EID: 0034834960     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323643     Document Type: Article

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