| 000 | 01473 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517084310.0 | ||
| 264 | 0 | _c20170508 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a2191-0251 | ||
| 024 | 7 |
_a10.1515/jpem-2015-0323 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYamashita, Sumie | |
| 245 | 0 | 0 |
_aNovel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. _h[electronic resource] |
| 260 |
_bJournal of pediatric endocrinology & metabolism : JPEM _cMay 2016 |
||
| 300 |
_a591-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBiomarkers _xmetabolism |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aDiabetes Insipidus, Nephrogenic _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPrognosis |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aReceptors, Vasopressin _xchemistry |
| 700 | 1 | _aHata, Astuko | |
| 700 | 1 | _aUsui, Takeshi | |
| 700 | 1 | _aOda, Hirotsugu | |
| 700 | 1 | _aHijikata, Atsushi | |
| 700 | 1 | _aShirai, Tsuyoshi | |
| 700 | 1 | _aKaneko, Naoto | |
| 700 | 1 | _aHata, Daisuke | |
| 773 | 0 |
_tJournal of pediatric endocrinology & metabolism : JPEM _gvol. 29 _gno. 5 _gp. 591-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1515/jpem-2015-0323 _zAvailable from publisher's website |
| 999 |
_c25824835 _d25824835 |
||