Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. (Record no. 28295444)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01560 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517212034.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201906s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23534 |
| 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 | Mignon-Ravix, Cécile |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190614 |
| 245 00 - TITLE STATEMENT | |
| Title | Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 07 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 934-938 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epileptic Syndromes |
| 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 | 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 | 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, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Activating Enzymes |
| 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 | Milh, Mathieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaiser, Charlotte Sophia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daniel, Jens |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riccardi, Florence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cacciagli, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagara, Majdi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Busa, Tiffany |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liebau, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villard, Laurent |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 7 |
| -- | p. 934-938 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23534">https://doi.org/10.1002/humu.23534</a> |
| Public note | Available from publisher's website |
No items available.