Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. (Record no. 21865616)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01139 a2200325 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516095504.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201309s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1757-790X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/bcr.11.2010.3552 |
| 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 | Imam, Ibrahim |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130903 |
| 245 00 - TITLE STATEMENT | |
| Title | Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMJ case reports |
| Date of publication, distribution, etc. | Mar 2011 |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eukaryotic Initiation Factor-2B |
| General subdivision | genetics |
| 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 Testing |
| 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 | Leukoencephalopathies |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ovarian Diseases |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Jeremy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Philip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thomas, P K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manji, Hadi |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMJ case reports |
| Related parts | vol. 2011 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/bcr.11.2010.3552">https://doi.org/10.1136/bcr.11.2010.3552</a> |
| Public note | Available from publisher's website |
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