Cholestasis Due to USP53 Deficiency

OBJECTIVES: Although a number of genetic forms of cholestasis have been identified, the genetic etiology of disease remains unidentified in a subset of cholestasis patients. METHODS: Whole exome sequencing (WES) was performed in DNA from patients diagnosed with cholestasis, at different points on th...

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Detalles Bibliográficos
Autores principales: Bull, Laura N., Ellmers, Rebecca, Foskett, Pierre, Strautnieks, Sandra, Sambrotta, Melissa, Czubkowski, Piotr, Jankowska, Irena, Wagner, Bart, Deheragoda, Maesha, Thompson, Richard J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Original Articles: Hepatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549450/
https://www.ncbi.nlm.nih.gov/pubmed/33075013
http://dx.doi.org/10.1097/MPG.0000000000002926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549450/
https://www.ncbi.nlm.nih.gov/pubmed/33075013
http://dx.doi.org/10.1097/MPG.0000000000002926

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