Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations

Kardiol Pol. 2019 Nov 22;77(11):1070-1073. doi: 10.33963/KP.15005. Epub 2019 Oct 1.

Małgorzata Konieczyńska^#¹, Ewa Wypasek^#^{2

3}, Marek Karpiński¹, Monika Komar^{1

4}, Sofie Symoens⁵, Paul J Coucke⁵, Anetta Undas^{6

7}

¹ Department of Diagnostics, John Paul II Hospital, Kraków, Poland
² Laboratory of Molecular Biology, John Paul II Hospital, Kraków, Poland. Electronic address: ewa.wypasek@wp.pl
³ Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Kraków, Poland
⁴ Department of Cardiac and Vascular Diseases, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland
⁵ Center for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium
⁶ Department of Cardiac Surgery, Anesthesiology and Experimental Cardiology, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland
⁷ Krakow Center for Medical Research and Technology, John Paul II Hospital, Kraków, Poland

^# Contributed equally.

No abstract available

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