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Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three distinct forms are described: FIC1 and FIC2, associated with low/normal GGT level in serum, which...

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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Giovannoni, Isabella, Callea, Francesco, Bellacchio, Emanuele, Torre, Giuliano, De Ville De Goyet, Jean, Francalanci, Paola
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683058/
https://ncbi.nlm.nih.gov/pubmed/26678486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0145021
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