Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
dc.contributor.author | Rope, Alan F. | eng |
dc.contributor.author | Wang, Kai | eng |
dc.contributor.author | Evjenth, Rune | eng |
dc.contributor.author | Xing, Jinchuan | eng |
dc.contributor.author | Johnston, Jennifer J. | eng |
dc.contributor.author | Swensen, Jeffrey J. | eng |
dc.contributor.author | Johnson, W. E. | eng |
dc.contributor.author | Moore, Barry | eng |
dc.contributor.author | Huff, Chad D. | eng |
dc.contributor.author | Bird, Lynne M. | eng |
dc.contributor.author | Carey, John C. | eng |
dc.contributor.author | Opitz, John M. | eng |
dc.contributor.author | Stevens, Cathy A. | eng |
dc.contributor.author | Schank, Christa | eng |
dc.contributor.author | Fain, Heidi D. | eng |
dc.contributor.author | Robison, Reid | eng |
dc.contributor.author | Dalley, Brian | eng |
dc.contributor.author | Chin, Steven | eng |
dc.contributor.author | South, Sarah T. | eng |
dc.contributor.author | Pysher, Theodore J. | eng |
dc.contributor.author | Jorde, Lynn B. | eng |
dc.contributor.author | Hakonarson, Hakon | eng |
dc.contributor.author | Lillehaug, Johan | eng |
dc.contributor.author | Biesecker, Leslie G. | eng |
dc.contributor.author | Yandell, Mark | eng |
dc.contributor.author | Arnesen, Thomas | eng |
dc.contributor.author | Lyon, Gholson J. | eng |
dc.date.accessioned | 2014-11-21T10:38:56Z | |
dc.date.available | 2014-11-21T10:38:56Z | |
dc.date.issued | 2011-09-19 | eng |
dc.identifier.issn | 1465-6914 | en_US |
dc.identifier.uri | https://hdl.handle.net/1956/8775 | |
dc.language.iso | eng | eng |
dc.publisher | BioMed Central | en_US |
dc.rights | Attribution CC BY | eng |
dc.rights.uri | http://creativecommons.org/licenses/by/2.0 | eng |
dc.title | Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency | en_US |
dc.type | Conference poster | |
dc.date.updated | 2013-08-28T15:43:09Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Alan F Rope et al.; licensee BioMed Central Ltd. | en_US |
dc.rights.holder | Copyright 2011 Rope et al; licensee BioMed Central Ltd | en_US |
dc.source.articlenumber | P13 | |
dc.identifier.doi | https://doi.org/10.1186/gb-2011-12-s1-p13 | |
dc.identifier.cristin | 996369 | |
dc.source.journal | Genome Biology | |
dc.source.volume | 12 | |
dc.source.issue | Supplement 1 |