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

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 (...

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Dades bibliogràfiques
Publicat a:Front Pediatr
Autors principals: Lipiński, Patryk, Ciara, Elżbieta, Jurkiewicz, Dorota, Pollak, Agnieszka, Wypchło, Maria, Płoski, Rafał, Cielecka-Kuszyk, Joanna, Socha, Piotr, Pawłowska, Joanna, Jankowska, Irena
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Pediatrics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7393978/
https://ncbi.nlm.nih.gov/pubmed/32793533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00414
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