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dc.contributor.author | Hagl, Beate |
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dc.contributor.author | Spielberger, Benedikt D. |
dc.contributor.author | Thoene, Silvia |
dc.contributor.author | Bonnal, Sophie |
dc.contributor.author | Mertes, Christian |
dc.contributor.author | Winter, Christof |
dc.contributor.author | Nijman, Isaac J. |
dc.contributor.author | Verduin, Shira |
dc.contributor.author | Eberherr, Andreas C. |
dc.contributor.author | Puel, Anne |
dc.contributor.author | Schindler, Detlev |
dc.contributor.author | Ruland, Jürgen |
dc.contributor.author | Meitinger, Thomas |
dc.contributor.author | Gagneur, Julien |
dc.contributor.author | Orange, Jordan S. |
dc.contributor.author | van Gijn, Marielle E. |
dc.contributor.author | Renner, Ellen D. |
dc.date | 2018 |
dc.identifier.citation | Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED. Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. Sci Rep. 2018; 8(1):16719. DOI 10.1038/s41598-018-34953-z |
dc.identifier.citation | 2045-2322 |
dc.identifier.citation | http://dx.doi.org/10.1038/s41598-018-34953-z |
dc.identifier.uri | http://hdl.handle.net/10230/43117 |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Nature Research |
dc.relation | Sci Rep. 2018; 8(1):16719 |
dc.relation | info:eu-repo/grantAgreement/EC/H2020/633974 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | © The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
dc.rights | http://creativecommons.org/licenses/by/4.0/ |
dc.subject | Disease genetics |
dc.subject | Genetic testing |
dc.subject | Immunological deficiency syndromes |
dc.subject | Primary immunodeficiency disorders |
dc.subject | RNA splicing |
dc.title | Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
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