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Genomics
Exon sequencing of the ABCB4 gene in PFIC3 patients
PRJNA876380 | ENA
UnknownSynthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3.
Not available
S-EPMC8188846 | biostudies-literature
UnknownClinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Not available
S-EPMC9773540 | biostudies-literature
UnknownOutcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Not available
S-EPMC10494458 | biostudies-literature
ProteomicsMolecular insights of cholestasis in MDR2KO murine liver organoids. A model for the early detection of cirrhosis and HCC
MDR3 (multidrug resistance 3) deficiency in humans (MDR2 in mice) causes progressive familial intrahepatic cholestasis type 3 (PFIC3). PFIC3 is a lethal disease characterized by an early onset of intrahepatic cholestasis, progressing to liver cirrhosis which is considered a preneoplastic condition, ...
ORGANISM(S): Mus musculus (Mouse) 
2026-09-17 | PXD047995 | Pride
Pfic3 Mdr2 Cholestasis and hepatocellular carcinoma Organoid 
UnknownGene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model.
Not available
S-EPMC6910969 | biostudies-literature
UnknownCase series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.
Not available
S-EPMC9774490 | biostudies-literature
UnknownFunctional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Not available
S-EPMC4891722 | biostudies-literature
UnknownIdentification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Not available
S-EPMC11550383 | biostudies-literature
UnknownNovel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report.
Not available
S-EPMC8891790 | biostudies-literature
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