Exome sequencing in patient‐parent trios suggests new candidate genes for early‐onset primary sclerosing cholangitis

BACKGROUND & AIMS: Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole‐exome sequencing (WES) has contributed to understanding the molecular basis of very early‐onset IBD, but rare protein‐altering genetic variants hav...

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Detalles Bibliográficos
Autores principales: Haisma, Sjoukje‐Marije, Weersma, Rinse K., Joosse, Maria E., de Koning, Barbara A. E., de Meij, Tim, Koot, Bart G. P., Wolters, Victorien, Norbruis, Obbe, Daly, Mark J., Stevens, Christine, Xavier, Ramnik J., Koskela, Jukka, Rivas, Manuel A., Visschedijk, Marijn C., Verkade, Henkjan J., Barbieri, Ruggero, Jansen, Dianne B. H., Festen, Eleonora A. M., van Rheenen, Patrick F., van Diemen, Cleo C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Genetics and Rare Liver Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252477/
https://www.ncbi.nlm.nih.gov/pubmed/33590606
http://dx.doi.org/10.1111/liv.14831

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