Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. (Record no. 27883730)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01983 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517191440.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201903s 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.23380 |
| 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 | Abbott, Jamie A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190328 |
| 245 00 - TITLE STATEMENT | |
| Title | Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 03 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 415-432 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Aminoacylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Axons |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biocatalysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Catalytic Domain |
| 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 | Genetic Complementation Test |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Histidine-tRNA Ligase |
| General subdivision | chemistry |
| 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 | Kinetics |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peripheral Nervous System Diseases |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Multimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Substrate Specificity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyer-Schuman, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupo, Vincenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feely, Shawna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mademan, Inès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oprescu, Stephanie N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Griffin, Laurie B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alberti, M Antonia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casasnovas, Carlos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aharoni, Sharon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basel-Vanagaite, Lina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Züchner, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baets, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shy, Michael E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Espinós, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Demeler, Borries |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonellis, Anthony |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francklyn, Christopher |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 3 |
| -- | p. 415-432 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23380">https://doi.org/10.1002/humu.23380</a> |
| Public note | Available from publisher's website |
No items available.