TY  - GEN
AU  - Yamashita,Sumie
AU  - Hata,Astuko
AU  - Usui,Takeshi
AU  - Oda,Hirotsugu
AU  - Hijikata,Atsushi
AU  - Shirai,Tsuyoshi
AU  - Kaneko,Naoto
AU  - Hata,Daisuke
TI  - Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
SN  - 2191-0251
PY  - 2017///0508
KW  - Biomarkers
KW  - metabolism
KW  - Child
KW  - DNA Mutational Analysis
KW  - methods
KW  - Diabetes Insipidus, Nephrogenic
KW  - genetics
KW  - Humans
KW  - Japan
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymerase Chain Reaction
KW  - Prognosis
KW  - Protein Conformation
KW  - Receptors, Vasopressin
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1515/jpem-2015-0323
ER  -