Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. (Record no. 25824835)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01473 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517084310.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2191-0251 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1515/jpem-2015-0323 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Yamashita, Sumie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170508 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of pediatric endocrinology & metabolism : JPEM |
| Date of publication, distribution, etc. | May 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 591-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diabetes Insipidus, Nephrogenic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Japan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prognosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Vasopressin |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hata, Astuko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Usui, Takeshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oda, Hirotsugu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hijikata, Atsushi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shirai, Tsuyoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaneko, Naoto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hata, Daisuke |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of pediatric endocrinology & metabolism : JPEM |
| Related parts | vol. 29 |
| -- | no. 5 |
| -- | p. 591-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1515/jpem-2015-0323">https://doi.org/10.1515/jpem-2015-0323</a> |
| Public note | Available from publisher's website |
No items available.