Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

<h4>Background and aim</h4>Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.<h4>Patients and methods</h4>Both paediatric (n = 33) and adult (n =...

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Main Authors: Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0288907&type=printable

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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0288907&type=printable

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