CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. (Record no. 27687286)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02047 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517181336.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201807s 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.23359 |
| 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 | Durand, Christelle M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180717 |
| 245 00 - TITLE STATEMENT | |
| Title | CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 01 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 140-151 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 | Alleles |
| 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 | Cytochrome P450 Family 2 |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enzyme Activation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 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 | Models, Molecular |
| 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 | Oxidation-Reduction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastic Paraplegia, Hereditary |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dhers, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tesson, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tessa, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fouillen, Laetitia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacqueré, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raymond, Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coupry, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benard, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darios, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El-Hachimi, Khalid H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Astrea, Guja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivier, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Banneau, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pujol, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durr, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Babin, Patrick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santorelli, Filippo M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pietrancosta, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boucher, Jean-Luc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansuy, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevanin, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goizet, Cyril |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 39 |
| -- | no. 1 |
| -- | p. 140-151 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23359">https://doi.org/10.1002/humu.23359</a> |
| Public note | Available from publisher's website |
No items available.