Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. (Record no. 14770782)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01527 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514183453.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-4813 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.ejhg.5201189 |
| 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 | Fogli, Anne |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050216 |
| 245 00 - TITLE STATEMENT | |
| Title | Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jul 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 561-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line, Transformed |
| 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 | 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 | Hereditary Central Nervous System Demyelinating Diseases |
| General subdivision | diagnosis |
| 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 | Lymphocytes |
| General subdivision | metabolism |
| 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 |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schiffmann, Raphael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hugendubler, Lynne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Combes, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodriguez, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kimball, Scot R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boespflug-Tanguy, Odile |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 12 |
| -- | no. 7 |
| -- | p. 561-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.ejhg.5201189">https://doi.org/10.1038/sj.ejhg.5201189</a> |
| Public note | Available from publisher's website |
No items available.