Article
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
American journal of human genetics - 1 Aug 1994
Bichet D G, Birnbaumer M, Lonergan M, Arthus M F, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Deamination
- Diabetes Insipidus
- Dinucleoside Phosphates
- Frameshift Mutation
- Genetic Linkage
- Haplotypes
- Humans
- Kidney Diseases
- Male
- Molecular Sequence Data
- Mutagenesis
- Mutation