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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Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Ciara, Elżbieta, Jurkiewicz, Dorota, Pollak, Agnieszka, Wypchło, Maria, Płoski, Rafał, Cielecka-Kuszyk, Joanna, Socha, Piotr, Pawłowska, Joanna, Jankowska, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393978/
https://www.ncbi.nlm.nih.gov/pubmed/32793533
http://dx.doi.org/10.3389/fped.2020.00414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393978/
https://www.ncbi.nlm.nih.gov/pubmed/32793533
http://dx.doi.org/10.3389/fped.2020.00414

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