Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. (Record no. 29275552)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01548 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518020605.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1097-6825 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jaci.2018.12.1012 |
| 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 | de Jesus, Adriana A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200615 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of allergy and clinical immunology |
| Date of publication, distribution, etc. | 05 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1939-1943.e8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chaperonins |
| General subdivision | genetics |
| 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 | 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 | Immunologic Deficiency Syndromes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Interferons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Chaperones |
| General subdivision | genetics |
| 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 | Proteasome Endopeptidase Complex |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brehm, Anja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | VanTries, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pillet, Pascal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parentelli, Anne-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montealegre Sanchez, Gina A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deng, Zuoming |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paut, Isabelle Koné |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldbach-Mansky, Raphaela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krüger, Elke |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of allergy and clinical immunology |
| Related parts | vol. 143 |
| -- | no. 5 |
| -- | p. 1939-1943.e8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jaci.2018.12.1012">https://doi.org/10.1016/j.jaci.2018.12.1012</a> |
| Public note | Available from publisher's website |
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