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

Rope, Alan F.; Wang, Kai; Evjenth, Rune; Xing, Jinchuan; Johnston, Jennifer J.; Swensen, Jeffrey J.; Johnson, W. E.; Moore, Barry; Huff, Chad D.; Bird, Lynne M.; Carey, John C.; Opitz, John M.; Stevens, Cathy A.; Schank, Christa; Fain, Heidi D.; Robison, Reid; Dalley, Brian; Chin, Steven; South, Sarah T.; Pysher, Theodore J.; Jorde, Lynn B.; Hakonarson, Hakon; Lillehaug, Johan; Biesecker, Leslie G.; Yandell, Mark; Arnesen, Thomas; Lyon, Gholson J.
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https://hdl.handle.net/1956/8775
Utgivelsesdato
2011-09-19
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https://doi.org/10.1186/gb-2011-12-s1-p13
Utgiver
BioMed Central
Tidsskrift
Genome Biology
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Alan F Rope et al.; licensee BioMed Central Ltd.
Copyright 2011 Rope et al; licensee BioMed Central Ltd
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Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution CC BY