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):

Published in:

European Journal of Human Genetics (2013), Bd. 21, H. 8, S. 887-890

Verlagsangabe:

Nature Publishing Group

Language:

English

Full text:

ISSN:

1018-4813

DDC Classifikation:

570 - Life sciences; biology
610 - Medicine and health

Dokumentart:

Article

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