High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles-Reference-Cited by-同舟云学术

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Published:2016-04-28 Issue:7 Volume:37 Page:703-709
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Günther Sven¹,Elert-Dobkowska Ewelina²,Soehn Anne S.³,Hinreiner Sophie⁴,Yoon Grace⁵,Heller Raoul⁶,Hellenbroich Yorck⁷,Hübner Christian A.⁸,Ray Peter N.⁹,Hehr Ute⁴,Bauer Peter³,Sulek Anna²,Beetz Christian¹

Affiliation:

1. Department of Clinical Chemistry and Laboratory Medicine; Jena University Hospital; Jena Germany

2. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland

3. Institute of Medical Genetics and Applied Genomics; University Hospital of Tuebingen; Tuebingen Germany

4. Center for Human Genetics, and Department of Human Genetics; University of Regensburg; Regensburg Germany

5. Division of Clinical and Metabolic Genetics; Department of Paediatrics; University of Toronto; The Hospital for Sick Children; Toronto Canada

6. Institute of Human Genetics; University Hospital of Cologne; Cologne Germany

7. Institute of Human Genetics; University of Lübeck; Lübeck Germany

8. Department of Human Genetics; Jena University Hospital; Jena Germany

9. Department of Paediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario Canada

Funder

Tom-Wahlig-Foundation

the Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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