A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. [electronic resource]
Producer: 19931105Description: 1201-4 p. digitalISSN:- 0964-6906
- 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
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Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
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