De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. (Record no. 21479922)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01849 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516073857.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201206s 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.2011.11.024 |
| 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 | Simpson, Michael A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120619 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Feb 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 290-4 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 | Acetylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Exome |
| 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 | Histone Acetyltransferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Histones |
| General subdivision | metabolism |
| 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 |
| General subdivision | enzymology |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Musculoskeletal Abnormalities |
| General subdivision | enzymology |
| 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 | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Urogenital Abnormalities |
| General subdivision | enzymology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deshpande, Charu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dafou, Dimitra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Woollard, Wesley J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holder, Susan E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillessen-Kaesbach, Gabriele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Derks, Ronny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | White, Susan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen-Snuijf, Ruthy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kant, Sarina G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoefsloot, Lies H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reardon, Willie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bongers, Ernie M H F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trembath, Richard C |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 90 |
| -- | no. 2 |
| -- | p. 290-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2011.11.024">https://doi.org/10.1016/j.ajhg.2011.11.024</a> |
| Public note | Available from publisher's website |
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