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Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

dc.contributor.authorRope, Alan F.eng
dc.contributor.authorWang, Kaieng
dc.contributor.authorEvjenth, Runeeng
dc.contributor.authorXing, Jinchuaneng
dc.contributor.authorJohnston, Jennifer J.eng
dc.contributor.authorSwensen, Jeffrey J.eng
dc.contributor.authorJohnson, W. E.eng
dc.contributor.authorMoore, Barryeng
dc.contributor.authorHuff, Chad D.eng
dc.contributor.authorBird, Lynne M.eng
dc.contributor.authorCarey, John C.eng
dc.contributor.authorOpitz, John M.eng
dc.contributor.authorStevens, Cathy A.eng
dc.contributor.authorSchank, Christaeng
dc.contributor.authorFain, Heidi D.eng
dc.contributor.authorRobison, Reideng
dc.contributor.authorDalley, Brianeng
dc.contributor.authorChin, Steveneng
dc.contributor.authorSouth, Sarah T.eng
dc.contributor.authorPysher, Theodore J.eng
dc.contributor.authorJorde, Lynn B.eng
dc.contributor.authorHakonarson, Hakoneng
dc.contributor.authorLillehaug, Johaneng
dc.contributor.authorBiesecker, Leslie G.eng
dc.contributor.authorYandell, Markeng
dc.contributor.authorArnesen, Thomaseng
dc.contributor.authorLyon, Gholson J.eng
dc.date.accessioned2014-11-21T10:38:56Z
dc.date.available2014-11-21T10:38:56Z
dc.date.issued2011-09-19eng
dc.identifier.issn1465-6914en_US
dc.identifier.urihttps://hdl.handle.net/1956/8775
dc.language.isoengeng
dc.publisherBioMed Centralen_US
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/2.0eng
dc.titleMassively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiencyen_US
dc.typeConference poster
dc.date.updated2013-08-28T15:43:09Z
dc.description.versionpublishedVersionen_US
dc.rights.holderAlan F Rope et al.; licensee BioMed Central Ltd.en_US
dc.rights.holderCopyright 2011 Rope et al; licensee BioMed Central Ltden_US
dc.source.articlenumberP13
dc.identifier.doihttps://doi.org/10.1186/gb-2011-12-s1-p13
dc.identifier.cristin996369
dc.source.journalGenome Biology
dc.source.volume12
dc.source.issueSupplement 1


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