A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. (Record no. 24951924)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 00978 a2200301 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517034335.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201506s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1015-8146 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Gungor, O |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150619 |
| 245 00 - TITLE STATEMENT | |
| Title | A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetic counseling (Geneva, Switzerland) |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 41-6 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 | Epilepsy |
| General subdivision | genetics |
| 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 | 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 | Leukoencephalopathies |
| 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 | Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozkaya, A K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hirfanoglu, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dilber, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aydin, K |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetic counseling (Geneva, Switzerland) |
| Related parts | vol. 26 |
| -- | no. 1 |
| -- | p. 41-6 |
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