Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. [electronic resource]
- Journal of pediatric endocrinology & metabolism : JPEM May 2016
- 591-6 p. digital
Publication Type: Case Reports; Journal Article
2191-0251
10.1515/jpem-2015-0323 doi
Biomarkers--metabolism Child DNA Mutational Analysis--methods Diabetes Insipidus, Nephrogenic--genetics Humans Japan Male Mutation, Missense--genetics Pedigree Polymerase Chain Reaction Prognosis Protein Conformation Receptors, Vasopressin--chemistry