Expanding the clinical phenotypes of MT-ATP6 mutations. (Record no. 23973920)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01554 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516221941.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201510s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddu339 |
| 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 | López-Gallardo, Ester |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151029 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding the clinical phenotypes of MT-ATP6 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Dec 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 6191-200 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 | 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Leigh Disease |
| General subdivision | genetics |
| 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 | Mitochondrial Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Myopathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Proton-Translocating ATPases |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinitis Pigmentosa |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emperador, Sonia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Solano, Abelardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Llobet, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martín-Navarro, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-Pérez, Manuel José |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briones, Paz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pineda, Mercedes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Artuch, Rafael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barraquer, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jericó, Ivonne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiz-Pesini, Eduardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montoya, Julio |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 23 |
| -- | no. 23 |
| -- | p. 6191-200 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddu339">https://doi.org/10.1093/hmg/ddu339</a> |
| Public note | Available from publisher's website |
No items available.