Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort

Author:

Mínguez Rodríguez Beatriz,Molera Busoms Cristina,Martorell Sampol Loreto,García Romero Ruth,Colomé Rivero Gemma,Martín de Carpi Javier

Publisher

Elsevier BV

Subject

General Earth and Planetary Sciences,General Environmental Science

Reference30 articles.

1. Progressive familial intrahepatic cholestasis;Srivastava;J Clin Exp Hepatol [Internet],2014

2. New insights in genetic cholestasis: from molecular mechanisms to clinical implications;Sticova;Can J Gastroenterol Hepatol,2018

3. Expanding etiology of progressive familial intrahepatic cholestasis;Henkel;World J Hepatol,2019

4. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic choelstasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history;Davit-Spraul;Hepatology,2010

5. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy;Dixon;Sci Rep [Internet],2017

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