Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression
Author:
Affiliation:
1. PGIMER, Histopathology, Chandigarh, India;
2. Post Graduate Institute of Medical Education and Research, Pediatric Gastroenterology, Nehru Hospital, Chandigarh, India
Publisher
Informa UK Limited
Subject
General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/15513815.2019.1641860
Reference24 articles.
1. Progressive Familial Intrahepatic Cholestasis
2. Whatever Happened to “Neonatal Hepatitis”?
3. Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families
4. Biliary atresia and other cholestatic childhood diseases: Advances and future challenges
5. Characterization of mutations inATP8B1associated with hereditary cholestasis
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