Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013188.pdf
Reference15 articles.
1. De Vree JML, Jacquemin E, Sturm E et al: Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 1998; 95: 282–287.
2. Jacquemin E, de Vree JLM, Cresteil D et al: The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001; 120: 1448–1458.
3. Degiorgio D, Colombo C, Seia M et al: Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007; 15: 1230–1238.
4. Colombo C, Vajro P, Degiorgio D et al: Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. J Pediatr Gastroenterol Nutr 2011; 52: 73–83.
5. Pasmant E, Goussard P, Baranes L et al: First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. Eur J Hum Genet 2012; 2: 277–282.
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