Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). (Record no. 25677024)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01889 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517075212.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1523-4681 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/jbmr.2797 |
| 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 | Piret, Sian E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171221 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research |
| Date of publication, distribution, etc. | 06 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1207-14 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTP-Binding Protein alpha Subunits |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Hypercalciuria |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypocalcemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypoparathyroidism |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Iran |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Secondary |
| 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 | Signal Transduction |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gorvin, Caroline M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pagnamenta, Alistair T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howles, Sarah A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cranston, Treena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rust, Nigel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nesbit, M Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glaser, Ben |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Jenny C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buchs, Andreas E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hannan, Fadil M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thakker, Rajesh V |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research |
| Related parts | vol. 31 |
| -- | no. 6 |
| -- | p. 1207-14 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/jbmr.2797">https://doi.org/10.1002/jbmr.2797</a> |
| Public note | Available from publisher's website |
No items available.