Clinical andABCB11profiles in Korean infants with progressive familial intrahepatic cholestasis
Author:
Publisher
Baishideng Publishing Group Inc.
Subject
Gastroenterology,General Medicine
Reference19 articles.
1. Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
2. Bile salt export pump deficiency: A de novo mutation in a child compound heterozygous forABCB11. Laboratory investigation to study pathogenic role and transmission of two novelABCB11mutations
3. Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing
4. Diagnosis of BSEP/ABCB11 Mutations in Asian Patients with Cholestasis Using Denaturing High Performance Liquid Chromatography
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2. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum;Annals of Human Genetics;2021-12-28
3. Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients;Frontiers in Oncology;2020-05-05
4. Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China;Pediatric Gastroenterology, Hepatology & Nutrition;2020
5. The Role of the Sodium-taurocholate Co-transporting Polypeptide (NTCP) and Bile Salt Export Pump (BSEP) in Related Liver Disease;Current Drug Metabolism;2019-06-20
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