A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

DSpace Repository

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Author: Rump, Andreas; Hildebrand, Laura; Tzschach, Andreas; Ullmann, Reinhard; Schrock, Evelin; Mitter, Diana
Tübinger Autor(en):
Tzschach, Andreas
Published in: European Journal of Human Genetics (2013), Bd. 21, H. 8, S. 887-890
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/ejhg.2012.267
ISSN: 1018-4813
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
Show full item record

This item appears in the following Collection(s)