The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. (Record no. 21410423)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01710 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516071422.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201207s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/awr323 |
| 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 | Rouzier, Cécile |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120719 |
| 245 00 - TITLE STATEMENT | |
| Title | The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | Jan 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 23-34 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 | DNA Damage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Mitochondrial |
| 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 | GTP Phosphohydrolases |
| General subdivision | genetics |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Myopathies |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | genetics |
| 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 | Optic Atrophy |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bannwarth, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaussenot, Annabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chevrollier, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verschueren, Annie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonello-Palot, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fragaki, Konstantina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cano, Aline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouget, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pellissier, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Procaccio, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chabrol, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paquis-Flucklinger, Véronique |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 135 |
| -- | no. Pt 1 |
| -- | p. 23-34 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/awr323">https://doi.org/10.1093/brain/awr323</a> |
| Public note | Available from publisher's website |
No items available.