Associated Papers
Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.
Choi S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2025
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Biyoukar M et al.
Jhep Reports : Innovation in Hepatology, 2022
36277956 (PubMed )
Supplement: mmc1.pdf
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Bakır A et al.
Annals of Human Genetics, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
37168916 (PubMed )
Supplement: pg9-3-e196-s001.pdf
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
33554096 (PubMed )
Supplement: mmc1.pdf
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A et al.
Bmc Gastroenterology, 2018
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy M et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2016
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D et al.
European Journal of Human Genetics : Ejhg, 2007
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