Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. (Record no. 21306415)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02502 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516063742.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 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.2011.10.008 |
| 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 | Clayton-Smith, Jill |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120221 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Nov 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 675-81 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 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 | Blepharophimosis |
| General subdivision | genetics |
| 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 | Chromatin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 10 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Hypothyroidism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 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 | Gene Expression Regulation, Developmental |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Defects, Congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Histone Acetyltransferases |
| General subdivision | deficiency |
| 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 | INDEL Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Joint Instability |
| 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 | Metabolism, Inborn Errors |
| General subdivision | genetics |
| 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, Transgenic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microarray Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Sullivan, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhaskar, Sanjeev |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Day, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, Beverley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voss, Anne K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thomas, Tim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biesecker, Leslie G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Philip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryer, Alan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandler, Kate E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kerr, Bronwyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tassabehji, May |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lynch, Sally-Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krajewska-Walasek, Malgorzata |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKee, Shane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Janine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sweeney, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansour, Sahar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohammed, Shehla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Donnai, Dian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Black, Graeme |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 89 |
| -- | no. 5 |
| -- | p. 675-81 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2011.10.008">https://doi.org/10.1016/j.ajhg.2011.10.008</a> |
| Public note | Available from publisher's website |
No items available.