Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

BACKGROUND: Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters. Herein, we firstly provide the evidence that a nonsense variant of ATP8B1 gene (c.1558A>T) in heter...

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Detaylı Bibliyografya
Yayımlandı:World J Hepatol
Asıl Yazarlar: Piazzolla, Mariano, Castellaneta, Nicola, Novelli, Antonio, Agolini, Emanuele, Cocciadiferro, Dario, Resta, Leonardo, Duda, Loren, Barone, Michele, Ierardi, Enzo, Di Leo, Alfredo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Baishideng Publishing Group Inc 2020
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7061267/
https://ncbi.nlm.nih.gov/pubmed/32184942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4254/wjh.v12.i2.64
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