MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. (Record no. 26580819)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02742 a2200865 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517123509.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2016.09.021 |
| 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 | Heimer, Gali |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170523 |
| 245 00 - TITLE STATEMENT | |
| Title | MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1229-1244 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 | Basal Ganglia |
| General subdivision | metabolism |
| 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 | 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 | Dystonic Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatty Acids |
| General subdivision | biosynthesis |
| 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 | Fibroblasts |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Complementation Test |
| 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 | metabolism |
| 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 | Models, Molecular |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 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 Acting on CH-CH Group Donors |
| General subdivision | chemistry |
| 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 | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Saccharomyces cerevisiae |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kerätär, Juha M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riley, Lisa G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balasubramaniam, Shanti |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eyal, Eran |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pietikäinen, Laura P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hiltunen, J Kalervo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marek-Yagel, Dina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamada, Jeffrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregory, Allison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rogers, Caleb |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hogarth, Penelope |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nance, Martha A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shalva, Nechama |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veber, Alvit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tzadok, Michal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nissenkorn, Andreea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tonduti, Davide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renaldo, Florence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kraoua, Ichraf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Panteghini, Celeste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valletta, Lorella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garavaglia, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cowley, Mark J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gayevskiy, Velimir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roscioli, Tony |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silberstein, Jonathon M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Chen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raas-Rothschild, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tiranti, Valeria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anikster, Yair |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christodoulou, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kastaniotis, Alexander J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ben-Zeev, Bruria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayflick, Susan J |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 99 |
| -- | no. 6 |
| -- | p. 1229-1244 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2016.09.021">https://doi.org/10.1016/j.ajhg.2016.09.021</a> |
| Public note | Available from publisher's website |
No items available.