References
- Alissa FT, Jaffe R, Shneider BL. (2008). Update on progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 46:241–52.
- Amer S, Hajira A. (2014). A comprehensive review of Progressive Familial Intrahepatic Cholestasis (PFIC): genetic disorders of hepatocanalicular transporters. Gastroenterol Res 7:39–43.
- Colombo C, Vajro P, Degiorgio D, et al. (2011). Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr 52:73–83.
- Davit-Spraul A, Gonzales E, Baussan C, et al. (2010). The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 30:134–46.
- Degiorgio D, Colombo C, Seia M, et al. (2007). Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 15:1230–8.
- Den Dunnen T, Antonarakis SE. (2000). Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12.
- Jacquemin E. (2012). Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol 36:S26–35.
- Jacquemin E, De Vree JM, Cresteil D, et al. (2001). The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 120:1448–58.
- Jirsa M, Bronský J, Dvořáková L, et al. (2014). ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones. World J Gastroenterol 20:5867–74.
- Kroetz DL, Pauli-Magnus C, Hodges LM, et al. (2003). Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics 13:481–94.
- Lang T, Haberl M, Jung D, et al. (2006). Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 34:1582–99.
- Lucena JF, Herrero JI, Quiroga J, et al. (2003). Multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 124:1037–42.
- National Centre of Biotechnology Information (NCBI). Available from: www.ncbi.nlm.nih.gov [last accessed 12 Apr 2015].
- Sanger F, Nicklen S, Coulson AR. (1977). DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463–7.
- Srivastava A. (2014). Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol 4:25–36.
- Sun H, Shi H, Zhang S, Shen X. (2015). Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. World J Gastroenterol 21:699–703.