Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G et al.
Molecular Medicine Reports, 2014
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
Saber S et al.
Indian Journal of Human Genetics, 2013
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