A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Affiliations

• ¹ Department of Medical Genetics, Telemark Hospital, Skien, Norway helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.
• ² Department of Medical Genetics, Telemark Hospital, Skien, Norway.
• ³ Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
• ⁴ Department of Clinical Sciences, Norrlands universitetssjukhus, Umeå, Sweden.
• ⁵ Centogene AG, Rostock, Germany.
• ⁶ Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
• ⁷ Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
• ⁸ Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
• ⁹ Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
• ¹⁰ Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
• ¹¹ Friedrich Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität München Medizinische Fakultät, Munich, Germany.
• ¹² Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.