Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

Dohrn, Maike F.; Gloeckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hoertnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Joerg B.; Claeys, Kristl G.; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schoels, Ludger; Lerche, Holger; Korenke, G. Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Draeger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate; Biskup, Saskia

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

Author:

Dohrn, Maike F.; Gloeckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hoertnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Joerg B.; Claeys, Kristl G.; Gess, Burkhard; Katona, Istvan; Ferbert, Andreas; Vittore, Debora; Grimm, Alexander; Wolking, Stefan; Schoels, Ludger; Lerche, Holger; Korenke, G. Christoph; Fischer, Dirk; Schrank, Bertold; Kotzaeridou, Urania; Kurlemann, Gerhard; Draeger, Bianca; Schirmacher, Anja; Young, Peter; Schlotter-Weigel, Beate; Biskup, Saskia

Tübinger Autor(en):

Vittore-Welliong, Debora
Grimm, Alexander
Wolking, Stefan
Lerche, Holger
Schöls, Ludger

Published in:

Journal of Neurochemistry (2017), Bd. 143, H. 5, S. 507-522

Verlagsangabe:

Wiley

Language:

English

Full text:

http://dx.doi.org/10.1111/jnc.14217

ISSN:

1471-4159