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Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.
Noor Ul Ayan, Hafiza; Ali, Pir Sheeraz; Korejo, Asad Aslam; Thiele, Holger; Nürnberg, Peter; Tariq, Muhammad; Jamal, Syed Zahid; Erdmann, Jeanette; Ahmad, Ilyas.
Affiliation
  • Noor Ul Ayan H; Institute for Cardiogenetics, University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck, Lübeck, Germany.
  • Ali PS; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Korejo AA; National Institute of Cardiovascular Disease, Karachi, Pakistan.
  • Thiele H; National Institute of Cardiovascular Disease, Karachi, Pakistan.
  • Nürnberg P; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Tariq M; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Jamal SZ; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Erdmann J; National Institute of Cardiovascular Disease, Karachi, Pakistan.
  • Ahmad I; Institute for Cardiogenetics, University of Lübeck, DZHK (German Research Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck, Lübeck, Germany.
Clin Genet ; 104(2): 266-268, 2023 08.
Article in En | MEDLINE | ID: mdl-36843528
ABSTRACT
Arrhythmogenic right ventricular cardiomyopathy caused by a homozygous frameshift variant (c.2358delA) in DSG2.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmogenic Right Ventricular Dysplasia Type of study: Etiology_studies Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Alemania
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmogenic Right Ventricular Dysplasia Type of study: Etiology_studies Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Alemania