Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. (Record no. 23982121)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02075 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516222222.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 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.2014.06.006 |
| 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 | Thevenon, Julien |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140827 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jul 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 113-20 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | complications |
| 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 | Genes, Recessive |
| 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 | Mutation |
| 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 | Seizures |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Symporters |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milh, Mathieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feillet, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | St-Onge, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Yannis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jugé, Clara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roubertie, Agathe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Héron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raffo, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wahlen, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanlaville, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villeneuve, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darmency-Stamboul, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefebvre, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chouchane, Mondher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lafon, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Saint Martin, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lesca, Gaetan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel-Paulet, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villard, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philippe, Christophe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 95 |
| -- | no. 1 |
| -- | p. 113-20 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.06.006">https://doi.org/10.1016/j.ajhg.2014.06.006</a> |
| Public note | Available from publisher's website |
No items available.