Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

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Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation

Author: Mayer, Anja K.; Rohrschneider, Klaus; Strom, Tim M.; Gloeckle, Nicola; Kohl, Susanne; Wissinger, Bernd; Weisschuh, Nicole
Tübinger Autor(en):
Mayer, Anja Kathrin
Kohl, Susanne
Wissinger, Bernd
Weisschuh, Nicole
Published in: European Journal of Human Genetics (2016), Bd. 24, H. 3, S. 459-462
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/ejhg.2015.144
ISSN: 1476-5438
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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