Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. (Record no. 26097965)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01963 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517100900.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddw157 |
| 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 | Palmer, Elizabeth E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170720 |
| 245 00 - TITLE STATEMENT | |
| Title | Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 07 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 3042-3054 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spasms, Infantile |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jarrett, Kelsey E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sachdev, Rani K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Zahrani, Fatema |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hashem, Mais Omar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ibrahim, Niema |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sampaio, Hugo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kandula, Tejaswi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Macintosh, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gupta, Rajat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conlon, Donna M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billheimer, Jeffrey T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rader, Daniel J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Funato, Kouichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walkey, Christopher J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Chang Seok |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loo, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brammah, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elakis, George |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhu, Ying |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buckley, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirk, Edwin P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bye, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alkuraya, Fowzan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roscioli, Tony |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lagor, William R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 25 |
| -- | no. 14 |
| -- | p. 3042-3054 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddw157">https://doi.org/10.1093/hmg/ddw157</a> |
| Public note | Available from publisher's website |
No items available.