Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. (Record no. 26908816)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01982 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517141408.0 |
| 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 | 1873-4596 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.freeradbiomed.2017.02.040 |
| 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 | Kudin, Alexei P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171215 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Free radical biology & medicine |
| Date of publication, distribution, etc. | 05 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 270-277 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 | Adolescent |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glutathione |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle, Skeletal |
| General subdivision | metabolism |
| 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 | Oxidative Stress |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reactive Oxygen Species |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thioredoxin Reductase 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baron, Gregor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zsurka, Gábor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hampel, Kevin G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elger, Christian E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grote, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Yvonne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lerche, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiele, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nürnberg, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schulz, Herbert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruppert, Ann-Kathrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sander, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheng, Qing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnér, Elias Sj |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schomburg, Lutz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seeher, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fradejas-Villar, Noelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schweizer, Ulrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kunz, Wolfram S |
| 773 0# - HOST ITEM ENTRY | |
| Title | Free radical biology & medicine |
| Related parts | vol. 106 |
| -- | p. 270-277 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.freeradbiomed.2017.02.040">https://doi.org/10.1016/j.freeradbiomed.2017.02.040</a> |
| Public note | Available from publisher's website |
No items available.