SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. (Record no. 30140595)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02821 a2200913 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518062104.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202007s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1558-8238 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1172/JCI128514 |
| 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 | Del Dotto, Valentina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200724 |
| 245 00 - TITLE STATEMENT | |
| Title | SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical investigation |
| Date of publication, distribution, etc. | 01 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 108-125 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Polymerase gamma |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Replication |
| 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 | DNA-Binding Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | 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 | Mitochondria |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proteins |
| General subdivision | chemistry |
| 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 | Optic Atrophies, Hereditary |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ullah, Farid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Meo, Ivano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magini, Pamela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gusic, Mirjana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maresca, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caporali, Leonardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palombo, Flavia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tagliavini, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baugh, Evan Harris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Macao, Bertil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szilagyi, Zsolt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peron, Camille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gustafson, Margaret A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Kamal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | La Morgia, Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barboni, Piero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carbonelli, Michele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valentino, Maria Lucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liguori, Rocco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shashi, Vandana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sullivan, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagaraj, Shashi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El-Dairi, Mays |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iannaccone, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cutcutache, Ioana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carrozzo, Rosalba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emma, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Diomedi-Camassei, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanna, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Armstrong, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Page, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stong, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boesch, Sylvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kopajtich, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wortmann, Saskia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sperl, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davis, Erica E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Copeland, William C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seri, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Falkenberg, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prokisch, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tiranti, Valeria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pippucci, Tommaso |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carelli, Valerio |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical investigation |
| Related parts | vol. 130 |
| -- | no. 1 |
| -- | p. 108-125 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1172/JCI128514">https://doi.org/10.1172/JCI128514</a> |
| Public note | Available from publisher's website |
No items available.