NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. (Record no. 27332584)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01368 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517162440.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201808s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.13089 |
| 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 | Baertling, F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180806 |
| 245 00 - TITLE STATEMENT | |
| Title | NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Jan 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 111-118 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex I |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 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 | Infant, Newborn |
| 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 Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sánchez-Caballero, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Brand, M A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fung, C-W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chan, S H-S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wong, V C-N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hellebrekers, D M E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, I F M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeitink, J A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, R J T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nijtmans, L G J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 93 |
| -- | no. 1 |
| -- | p. 111-118 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.13089">https://doi.org/10.1111/cge.13089</a> |
| Public note | Available from publisher's website |
No items available.