Ontology highlight
ABSTRACT:
SUBMITTER: Bichet DG
PROVIDER: S-EPMC1918376 | biostudies-other | 1994 Aug
REPOSITORIES: biostudies-other
Bichet D G DG Birnbaumer M M Lonergan M M Arthus M F MF Rosenthal W W Goodyer P P Nivet H H Benoit S S Giampietro P P Simonetti S S
American journal of human genetics 19940801 2
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vaso-pressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28. We analyzed 31 independent NDI families to determine the nature and recurrence of AVPR2 mutations. Twenty-one new putative disease-causing mutations were identified: 113delCT, 253del35, 255de19, 274insG, V88M, R106C, 402delCT, C112R, Y124X, S126F, W164S, S167L, 684delTA, 804insG, W284X, A285P, W293X, R337X, and ...[more]