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Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: lessons of the bioinformatics pipeline

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Main Authors: Granzow, Martin (Author) , Paramasivam, Nagarajan (Author) , Hinderhofer, Katrin (Author) , Fischer, Christine (Author) , Kaufmann, Lilian (Author) , Evers, Christina (Author) , Kotzaeridou, Urania (Author) , Rohrschneider, Klaus (Author) , Eils, Roland (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author)
Format: Article (Journal)
Language:English
Published: October 2015
In: Molecular and cellular probes
Year: 2015, Volume: 29, Issue: 5, Pages: 323-329
ISSN:1096-1194
DOI:10.1016/j.mcp.2015.05.012
Online Access:Verlag, Volltext: http://dx.doi.org/10.1016/j.mcp.2015.05.012
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Author Notes:M. Granzow, N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U. Kotzaeridou, K. Rohrschneider, M. Schlesner, M. Sturm, S. Pinkert, R. Eils, C.R. Bartram, P. Bauer, U. Moog
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Item Description:Gesehen am 08.11.2016
Physical Description:Online Resource
ISSN:1096-1194
DOI:10.1016/j.mcp.2015.05.012

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