Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus

Human Molecular Genetics

Volumn 3, Issue 9, 1994, Pages 1685-1686

  Faa V ^c   Ventruto, M L ^c   Loche, S ^a   Bozzola, M ^b   Podda, R ^c   Cao, A ^c   Rosatelli, M C ^c  

^a Osp Regionale per le Microcitemie   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

VASOPRESSIN V2 RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE DELETION; GENE SEQUENCE; HUMAN; ITALY; NEPHROGENIC DIABETES INSIPIDUS; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE;

AMINO ACID SEQUENCE; BASE SEQUENCE; DIABETES INSIPIDUS, NEPHROGENIC; DNA; FEMALE; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MOLECULAR STRUCTURE; MUTATION; POINT MUTATION; RECEPTORS, VASOPRESSIN; SEQUENCE DELETION;

EID: 0028110895     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.9.1685     Document Type: Note

References (6)

1. Knoers, N. and Monnens, L.A.H. (1992) Nephrogenic diabetes insipidus: Clinical symptoms, pathogenesis, genetics and treatment, Pediatr. Nephrol. 6, 476-482.
2. Btmbaumer, M., Seibold, A., Gabert, S., Ishido, M., Barberis, C., Antaramian, A., Brabet, P. and Rosenthal, W. (1992) Molecular cloning of the receptor for human antidiuretic hormone. Nature 357, 333-334.
3. Rosenthal, W., Seibold, A., Antaramian, A., Lonergan, M., Arthus, M.F., Hendy, G.N., Bimbaumer, M. and Bichet, D.G. (1992) Molecular identification of the gene responsible for congenita] nephrogenic diabetes insipidus. Nature 359, 233-234.
4. Van den Ouweland, A.M.W., Dreesen, J.C.F.M., Verdijk, M., Knoers, N.V.A.M., Monnens, L.A.H., Rocchi, M. and van Oost, B.A. (1992) Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nature Genet. 2, 99-102.
5. Pan, Y., Metzenberg, A., Das, S., Jing, B. (1992) Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nature Genet. 2, 103-106.
6. Holtzman, E.J., Harris, H.W., Kolakowski, L.F., Guay-Woodford, L.M., Botelho, B. and Ausiello, D.A. (1993) Brief Report: A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. New Eng. J. Med. 328, 1534-1537.