Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (Record no. 27693167)
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|---|---|
| fixed length control field | 02880 a2200961 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517181521.0 |
| 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 | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddx377 |
| 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 | Peng, Yanyan |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180720 |
| 245 00 - TITLE STATEMENT | |
| Title | Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 12 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 4937-4950 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 | Alleles |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport |
| 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 | Ferredoxins |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Iron |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Iron-Sulfur Proteins |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondria |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Membranes |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutagenesis |
| 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 Atrophy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidoreductases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sulfite Reductase (Ferredoxin) |
| General subdivision | genetics |
| 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 | Shinde, Deepali N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valencia, C Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mo, Jun-Song |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenfeld, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Truitt Cho, Megan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chamberlin, Adam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Zhuo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Jie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gui, Baoheng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brockhage, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basinger, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alvarez-Leon, Brenda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heydemann, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magoulas, Pilar L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewis, Andrea M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scaglia, Fernando |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gril, Solange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chong, Shuk Ching |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bower, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monaghan, Kristin G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willaert, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plona, Maria-Renee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dineen, Rich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milan, Francisca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoganson, George |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Powis, Zoe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keller-Ramey, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harris, Belinda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Laura C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Green, Torrian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sukoff Rizzo, Stacey J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaylor, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Jiani |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guan, Min-Xin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sellars, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sparagana, Steven P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibson, James B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reinholdt, Laura G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Sha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Taosheng |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 26 |
| -- | no. 24 |
| -- | p. 4937-4950 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddx377">https://doi.org/10.1093/hmg/ddx377</a> |
| Public note | Available from publisher's website |
No items available.