A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. (Record no. 25938163)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02011 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517092019.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2015-103576 |
| 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 | Alston, Charlotte L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171031 |
| 245 00 - TITLE STATEMENT | |
| Title | A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 09 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 634-41 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dwarfism |
| General subdivision | genetics |
| 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 | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 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 | Genetic Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Male |
| 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 Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howard, Caoimhe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oláhová, Monika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hardy, Steven A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Langping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murray, Philip G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Sullivan, Siobhan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doherty, Gary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shield, Julian P H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hargreaves, Iain P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monavari, Ardeshir A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knerr, Ina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McCarthy, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Andrew A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorburn, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prokisch, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton, Peter E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McFarland, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hughes, Joanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crushell, Ellen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Robert W |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 53 |
| -- | no. 9 |
| -- | p. 634-41 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2015-103576">https://doi.org/10.1136/jmedgenet-2015-103576</a> |
| Public note | Available from publisher's website |
No items available.