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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

Rope, Alan F ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J ; Swensen, Jeffrey J ; Johnson, W Evan ; Moore, Barry ; Huff, Chad D ; Bird, Lynne M ; Carey, John C ; Opitz, John M ; Stevens, Cathy A ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T ; Pysher, Theodore J ; Jorde, Lynn B ; Hakonarson, Hakon ; Lillehaug, Johan R ; Biesecker, Leslie G ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J

Genome biology, 2011-01, Vol.12 (S1), p.P13-P13, Article P13 [Periódico revisado por pares]

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Título:
Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency
Autor: Rope, Alan F ; Wang, Kai ; Evjenth, Rune ; Xing, Jinchuan ; Johnston, Jennifer J ; Swensen, Jeffrey J ; Johnson, W Evan ; Moore, Barry ; Huff, Chad D ; Bird, Lynne M ; Carey, John C ; Opitz, John M ; Stevens, Cathy A ; Schank, Christa ; Fain, Heidi Deborah ; Robison, Reid ; Dalley, Brian ; Chin, Steven ; South, Sarah T ; Pysher, Theodore J ; Jorde, Lynn B ; Hakonarson, Hakon ; Lillehaug, Johan R ; Biesecker, Leslie G ; Yandell, Mark ; Arnesen, Thomas ; Lyon, Gholson J
Assuntos: Poster Presentation
É parte de: Genome biology, 2011-01, Vol.12 (S1), p.P13-P13, Article P13
Editor: BioMed Central Ltd
Idioma: Inglês

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