A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. (Record no. 29705989)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02249 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518041219.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 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.2019.04.001 |
| 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 | Helbig, Ingo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200311 |
| 245 00 - TITLE STATEMENT | |
| Title | A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 06 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1060-1072 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 | Adaptor Protein Complex 2 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Protein Complex mu Subunits |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Brain Diseases |
| General subdivision | etiology |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Clathrin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endocytosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| General subdivision | etiology |
| 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 | 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Knockout |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurodevelopmental Disorders |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lopez-Hernandez, Tania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shor, Oded |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Galer, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ganesan, Shiva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendziwiat, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rademacher, Annika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ellis, Colin A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hümpfer, Nadja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwarz, Niklas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seiffert, Simone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peeden, Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shen, Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Štěrbová, Katalin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hammer, Trine Bjørg |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shinde, Deepali N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Sha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Lacey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poduri, Annapurna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krause, Roland |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benninger, Felix |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haucke, Volker |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Yvonne G |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 104 |
| -- | no. 6 |
| -- | p. 1060-1072 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2019.04.001">https://doi.org/10.1016/j.ajhg.2019.04.001</a> |
| Public note | Available from publisher's website |
No items available.