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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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Detalles Bibliográficos
Autores principales: Giovannoni, Isabella, Callea, Francesco, Bellacchio, Emanuele, Torre, Giuliano, De Ville De Goyet, Jean, Francalanci, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683058/
https://www.ncbi.nlm.nih.gov/pubmed/26678486
http://dx.doi.org/10.1371/journal.pone.0145021