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A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir J; Andersen, Peter M; Beetz, Christian; Hacker, Sandra; Holla, Øystein L; Kurth, Ingo; Löscher, Wolfgang N; Reiter, Simone B C F; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; Senderek, Jan; Auer-Grumbach, Michaela.
Afiliación
  • Høyer H; Department of Medical Genetics, Telemark Hospital, Skien, Norway helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.
  • Hilmarsen HT; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
  • Sunder-Plassmann R; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
  • Braathen GJ; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
  • Andersen PM; Department of Clinical Sciences, Norrlands universitetssjukhus, Umeå, Sweden.
  • Beetz C; Centogene AG, Rostock, Germany.
  • Hacker S; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
  • Holla ØL; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
  • Kurth I; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Löscher WN; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Reiter SBCF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Rudnik-Schöneborn S; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Strand L; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
  • Windhager R; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
  • Witsch-Baumgartner M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Senderek J; Friedrich Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität München Medizinische Fakultät, Munich, Germany.
  • Auer-Grumbach M; Department of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.
J Med Genet ; 59(10): 1024-1026, 2022 Oct.
Article en En | MEDLINE | ID: mdl-35318247
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Alelos Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Alelos Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article