High frequency of pathogenic rearrangements in SPG11 and extensive contribution of mutational hotspots and founder alleles

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High frequency of pathogenic rearrangements in SPG11 and extensive contribution of mutational hotspots and founder alleles

Author: Guenther, Sven; Elert-Dobkowska, Ewelina; Soehn, Anne S.; Hinreiner, Sophie; Yoon, Grace; Heller, Raoul; Hellenbroich, Yorck; Huebner, Christian A.; Ray, Peter N.; Hehr, Ute; Bauer, Peter; Sulek, Anna; Beetz, Christian
Tübinger Autor(en):
Söhn, Anne
Bauer, Peter
Published in: Human Mutation (2016), Bd. 37, H. 7, S. 703-709
Verlagsangabe: Wiley - Blackwell
Language: English
Full text: http://dx.doi.org/10.1002/humu.23000
ISSN: 1098-1004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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