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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.

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Description scientific article published on 19 September 2011
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author: John Marius Opitz  Reid Robison  Kai Wang  Lynne M Bird  Jinchuan Xing  Leslie G Biesecker  Lynn Jorde  Rune Evjenth  Johan R. Lillehaug  Barry Moore II  Cathy A. Stevens  Alan F Rope  Gholson J Lyon  Christa Schank  Chad D. Huff  Thomas Arnesen  Jeffrey J. Swensen  Mark Yandell  Heidi Deborah Fain  Theodore J. Pysher  Brian Dalley  Hakon Hakonarson 

Publication date September 19, 2011
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