A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. (Record no. 26022305)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01713 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517094547.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201702s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2016.05.005 |
| 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 | Barøy, Tuva |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170210 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Jun 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 342-6 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 | Child |
| 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 | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | F-Box Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | metabolism |
| 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 | Metabolism, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Encephalomyopathies |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle, Skeletal |
| General subdivision | pathology |
| 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 | Norway |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Protein Ligases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pedurupillay, Christeen Ramane J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bliksrud, Yngve T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rasmussen, Magnhild |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holmgren, Asbjørn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vigeland, Magnus D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hughes, Timothy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brink, Maaike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nedregaard, Bård |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strømme, Petter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frengen, Eirik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Misceo, Doriana |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 59 |
| -- | no. 6-7 |
| -- | p. 342-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2016.05.005">https://doi.org/10.1016/j.ejmg.2016.05.005</a> |
| Public note | Available from publisher's website |
No items available.