THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. (Record no. 25066335)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02284 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517042057.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201510s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2015.05.021 |
| 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 | Kumar, Raman |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151029 |
| 245 00 - TITLE STATEMENT | |
| Title | THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Aug 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 302-10 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Active Transport, Cell Nucleus |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | Chromosomes, Human, X |
| 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 | X-Linked Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA-Binding Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corbett, Mark A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bon, Bregje W M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Woenig, Joshua A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weir, Lloyd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douglas, Evelyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friend, Kathryn L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gardner, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jolly, Lachlan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Chuan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunter, Matthew F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hackett, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Field, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palmer, Elizabeth E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leffler, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rogers, Carolyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boyle, Jackie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bienek, Melanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jensen, Corinna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Buggenhout, Griet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Esch, Hilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Katrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raynaud, Martine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Huiying |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reed, Robin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hu, Hao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haas, Stefan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kalscheuer, Vera M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gecz, Jozef |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 97 |
| -- | no. 2 |
| -- | p. 302-10 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.05.021">https://doi.org/10.1016/j.ajhg.2015.05.021</a> |
| Public note | Available from publisher's website |
No items available.