Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (Record no. 24796485)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01958 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517025141.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 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.2015.02.016 |
| 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 | Carvill, Gemma L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150729 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 808-15 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GABA Plasma Membrane Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McMahon, Jacinta M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schneider, Amy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zemel, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Myers, Candace T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saykally, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robbiano, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zara, Federico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Specchio, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mecarelli, Oriano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Robert L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leventer, Richard J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nikanorova, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dimova, Petia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jordanova, Albena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petrou, Steven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weckhuysen, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berkovic, Samuel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Ingrid E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 5 |
| -- | p. 808-15 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.02.016">https://doi.org/10.1016/j.ajhg.2015.02.016</a> |
| Public note | Available from publisher's website |
No items available.