Yamashita, Sumie

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