Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4. (Record no. 24544894)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01242 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517012907.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.12554 |
| 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 | Kanbayashi, Takamichi |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160627 |
| 245 00 - TITLE STATEMENT | |
| Title | Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Oct 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 401-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter |
| 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 Association Studies |
| 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saito, Fumiaki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsukawa, Takashi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oba, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hokkoku, Keiichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hatanaka, Yuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsuji, Shoji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sonoo, Masahiro |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 88 |
| -- | no. 4 |
| -- | p. 401-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.12554">https://doi.org/10.1111/cge.12554</a> |
| Public note | Available from publisher's website |
No items available.