Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

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Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Author: Varga, Rita-Eva; Schuele, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nuernberg, Gudrun; Thiele, Holger; Altmueller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y.; Nuernberg, Peter; Zuchner, Stephan; Beetz, Christian
Tübinger Autor(en):
Schüle-Freyer, Rebecca
Published in: Human Mutation (2013), Bd. 34, H. 6, S. 860-863
Verlagsangabe: Wiley - Blackwell
Language: English
Full text: http://dx.doi.org/10.1002/humu.22309
ISSN: 1059-7794
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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