Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. (Record no. 20751120)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01757 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516032813.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201112s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1364-6753 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10048-011-0284-7 |
| 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 | Matsukawa, Takashi |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111219 |
| 245 00 - TITLE STATEMENT | |
| Title | Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Aug 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 259-61 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 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 | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Leukoencephalopathies |
| General subdivision | epidemiology |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Degeneration |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Isoforms |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Xuemin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wortham, Noel C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Onuki, Yuko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kubota, Akatsuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hida, Ayumi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kowa, Hisatomo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fukuda, Yoko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ishiura, Hiroyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitsui, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takahashi, Yuji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aoki, Shigeki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takizawa, Shunya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shimizu, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goto, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Proud, Christopher G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsuji, Shoji |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 12 |
| -- | no. 3 |
| -- | p. 259-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-011-0284-7">https://doi.org/10.1007/s10048-011-0284-7</a> |
| Public note | Available from publisher's website |
No items available.