Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATP-dependent canalicular bile salt export pum...

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Bibliographic Details
Main Authors: Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gamal, Paola Francalanci, Fabio Conti, Pietro Andreone
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Annals of Hepatology
Subjects:
Progressive familial intrahepatic cholestasis
Benign intrahepatic cholestasis
Cholestatic diseases
Gamma-glutamil-transpeptidase
Alkaline phosphatase
Online Access:http://www.sciencedirect.com/science/article/pii/S1665268119306441

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http://www.sciencedirect.com/science/article/pii/S1665268119306441

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