Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. (Record no. 17984031)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01625 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515121723.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200806s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/1471-2350-9-42 |
| 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 | Fujimoto, Masaya |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080618 |
| 245 00 - TITLE STATEMENT | |
| Title | Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC medical genetics |
| Date of publication, distribution, etc. | May 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 42 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CD4 Lymphocyte Count |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTPase-Activating Proteins |
| 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 | Immunoglobulin G |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotide Array Sequence Analysis |
| 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 | Physical Chromosome Mapping |
| 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 | Receptors, Vasopressin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Imai, Kohsuke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hirata, Kenji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kashiwagi, Reiichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morinishi, Yoichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitazawa, Katsuhiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sasaki, Sei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arinami, Tadao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nonoyama, Shigeaki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noguchi, Emiko |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC medical genetics |
| Related parts | vol. 9 |
| -- | p. 42 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/1471-2350-9-42">https://doi.org/10.1186/1471-2350-9-42</a> |
| Public note | Available from publisher's website |
No items available.