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Article

Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Nov 2022

Zheng Yucan, Zhou Chunlei, Zheng Bixia, Hu Guorui, Wang Chunli, Zhou Wei, Lu Yan, Zhang Zhihua, Lin Qian, Guo Hongmei, Jin Yu, Liu Zhifeng, Tang Weibing

Abstract excerpt

BACKGROUND: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare disorder caused by variants in the ABCB11 gene encoding the bile salt export pump (BSEP). We investigated the molecular defect in a PFIC2 infant and rescued the splicing defect with antisense oligonucleotides (ASOs). METHODS: Whole-exome sequencing (WES) revealed compound heterozygous variants in the ABCB11 gene in a PFIC2 patient....

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PMID: 35490150
DOI: 10.1016/j.dld.2022.04.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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