A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach
Journal of Medical Genetics Oct 2022, 59 (10) 1024-1026; DOI: 10.1136/jmedgenet-2021-108281
