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

Author: Granzow, M.; Paramasivam, N.; Hinderhofer, K.; Fischer, C.; Chotewutmontri, S.; Kaufmann, L.; Evers, C.; Kotzaeridou, U.; Rohrschneider, K.; Schlesner, M.; Sturm, M.; Pinkert, S.; Eils, R.; Bartram, C. R.; Bauer, P.; Moog, U.
Tübinger Autor(en):
Sturm, Marc
Bauer, Peter
Published in: Molecular and Cellular Probes (2015), Bd. 29, H. 5, S. 323-329
Verlagsangabe: Academic Press Ltd - Elsevier Science Ltd
Language: English
Full text: http://dx.doi.org/10.1016/j.mcp.2015.05.012
ISSN: 0890-8508
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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