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Article

The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.

Scientific reports - 14 Aug 2024

Riaz Hafsa, Zheng Bixia, Zheng Yucan, Liu Zhifeng, Gu Hong-Mei, Imran Muhammad, Yaqoob Tahir, Bhinder Munir Ahmad, Zhang Da-Wei, Zahoor Muhammad Yasir

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a rare childhood manifested disease associated with impaired bile secretion with severe pruritus yellow stool, and sometimes hepatosplenomegaly. PFIC is caused by mutations in ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, SLC51A, USP53, KIF12, ZFYVE19, and MYO5B genes depending on its type. ABCB11 mutations lead to PFIC2 that encodes the bile salt export pump (BSEP)....

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39143102
DOI: 10.1038/s41598-024-59945-0
PMCID: PMC11324741

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