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

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Poster Presentation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439021/
http://dx.doi.org/10.1186/gb-2011-12-s1-p13
Descripción
Sumario:

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