Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. (Record no. 22330289)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01756 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516124135.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201302s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2492 |
| 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 | Nesbit, M Andrew |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130222 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Jan 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 93-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Protein Complex 2 |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Protein Complex sigma Subunits |
| General subdivision | chemistry |
| 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Conserved Sequence |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypercalcemia |
| General subdivision | genetics |
| 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Calcium-Sensing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hannan, Fadil M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howles, Sarah A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reed, Anita A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cranston, Treena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thakker, Clare E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregory, Lorna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rimmer, Andrew J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rust, Nigel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graham, Una |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morrison, Patrick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunter, Steven J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whyte, Michael P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McVean, Gil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buck, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thakker, Rajesh V |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 45 |
| -- | no. 1 |
| -- | p. 93-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2492">https://doi.org/10.1038/ng.2492</a> |
| Public note | Available from publisher's website |
No items available.