A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. [electronic resource]
- Human molecular genetics Aug 1993
- 1201-4 p. digital
Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
0964-6906
10.1093/hmg/2.8.1201 doi
Amino Acid Sequence Base Sequence Cloning, Molecular DNA Primers Deoxyribonucleases, Type II Site-Specific Diabetes Insipidus--genetics Female Frameshift Mutation Genetic Carrier Screening Haplotypes--genetics Humans Kidney Diseases--genetics Male Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction Receptors, Vasopressin--genetics Restriction Mapping X Chromosome