Article
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Anatolian journal of cardiology - 1 Nov 2023
Oktay Veysel, Tüfekçioğlu Omaç, Yılmaz Dilek Çicek, Onrat Ersel, Karabulut Dilay, Çelik Murat, Balcıoğlu Akif Serhat, Sucu Mehmet Murat, Özdemir Güllü, Kaya Hakkı, Kış Mehmet, Güven Barış, Bağdatoğlu Oktay, Turhan Çağlar Fatma Nihan, Yüksel Uygar Çağdaş, Düzen İrfan Veysel, Barutçu Ahmet, Şimşir Özgüç Semih, Başarıcı İbrahim, Parspur Afşin, Dalgıç Onur, Arıcan Özlük Fatma Özlem, Evlice Mert, Sağ Saim, Deniz Muhammed Furkan, Öcal Arslan, Gazi Emine, Şen Taner, Özdabakoğlu Osman, Bayar Çakıcı Nermin, Bakır Eren Ozan, Ülgen Kunak Ayşegül, Çaylı Gizem, Gül Taşdelen Aybike, Akşit Ercan, Uslu Çil Şefika, Onay Hüseyin
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. METHODS: A total of 392 patients with...
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