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Title:

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Document type:
Zeitschriftenaufsatz
Author(s):
Hagl, Beate; Spielberger, Benedikt D.; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J.; Verduin, Shira; Eberherr, Andreas C.; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S.; van Gijn, Marielle E.; Renner, Ellen D.
Journal title:
Scientific Reports
Year:
2018
Journal volume:
8
Journal issue:
1
Fulltext / DOI:
doi:10.1038/s41598-018-34953-z
Publisher:
Springer Nature
E-ISSN:
2045-2322
Date of publication:
13.11.2018
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