De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (Record no. 21982575)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02701 a2200901 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516103700.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201211s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2358 |
| 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 | Heinzen, Erin L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121119 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Sep 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1030-4 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 | Adult |
| 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 | COS Cells |
| 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 | Chlorocebus aethiops |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hemiplegia |
| General subdivision | genetics |
| 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 | Models, Biological |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | physiology |
| 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 | Protein Structure, Secondary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium-Potassium-Exchanging ATPase |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swoboda, Kathryn J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hitomi, Yuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gurrieri, Fiorella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nicole, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Boukje |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tiziano, F Danilo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fontaine, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walley, Nicole M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heavin, Sinéad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Panagiotakaki, Eleni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fiori, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abiusi, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Pietro, Lorena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sweney, Matthew T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Newcomb, Tara M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viollet, Louis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huff, Chad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jorde, Lynn B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reyna, Sandra P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murphy, Kelley J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shianna, Kevin V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gumbs, Curtis E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Little, Latasha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silver, Kenneth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ptáček, Louis J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Joost |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferrari, Michel D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bye, Ann M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herkes, Geoffrey K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whitelaw, Charlotte M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Webb, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lynch, Bryan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uldall, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | King, Mary D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Ingrid E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neri, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arzimanoglou, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Maagdenberg, Arn M J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sisodiya, Sanjay M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mikati, Mohamad A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldstein, David B |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 44 |
| -- | no. 9 |
| -- | p. 1030-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2358">https://doi.org/10.1038/ng.2358</a> |
| Public note | Available from publisher's website |
No items available.