Holtzman, E J

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