Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: Evidence of disrupted water channel function

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 9, 1998, Pages 3205-3209

  Goji, Katsumi ^a   Kuwahara, Michio ^b   Gu, Yong ^b   Matsuo, Masafumi ^c   Marumo, Fumiaki ^b   Sasaki, Sei ^b  

^a KOBE CHILDREN S HOSPITAL   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c KOBE UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; NEPHROGENIC DIABETES INSIPIDUS; PRIORITY JOURNAL; SIBLING;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; CELL MEMBRANE; CHILD, PRESCHOOL; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOBLOTTING; INFANT, NEWBORN; ION CHANNELS; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; PEDIGREE; TRANSFECTION; XENOPUS LAEVIS;

EID: 0031773249     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.9.3205     Document Type: Article

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