Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. (Record no. 21610406)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02101 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516082443.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201207s 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.2012.02.007 |
| 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 | Hoyer, Juliane |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120713 |
| 245 00 - TITLE STATEMENT | |
| Title | Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Mar 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 565-72 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 | Adolescent |
| 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 | 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 | Chromatin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromatin Assembly and Disassembly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomal Proteins, Non-Histone |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Haploinsufficiency |
| 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 | Intellectual Disability |
| 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 | Middle Aged |
| 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 | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ekici, Arif B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Endele, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Popp, Bernt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Christiane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wiesener, Antje |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wohlleber, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dufke, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossier, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petsch, Corinna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Markus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Göhring, Ina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zink, Alexander M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rappold, Gudrun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schröck, Evelin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riess, Olaf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reis, André |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 90 |
| -- | no. 3 |
| -- | p. 565-72 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.02.007">https://doi.org/10.1016/j.ajhg.2012.02.007</a> |
| Public note | Available from publisher's website |
No items available.