Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience

• Asıl Yazarlar: Patryk Lipiński (Yazar), Elżbieta Ciara (Yazar), Dorota Jurkiewicz (Yazar), Agnieszka Pollak (Yazar), Maria Wypchło (Yazar), Rafał Płoski (Yazar), Joanna Cielecka-Kuszyk (Yazar), Piotr Socha (Yazar), Joanna Pawłowska (Yazar), Irena Jankowska (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Objective: To evaluate the clinical utility of panel-based NGS in the diagnostic approach of monogenic cholestatic liver diseases.Study design: Patients with diagnosis of chronic cholestatic liver disease of an unknown etiology underwent NGS of targeted genes panel. Group 1 included five patients (p...