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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...
Autores principales: | Giovannoni, Isabella, Callea, Francesco, Bellacchio, Emanuele, Torre, Giuliano, De Ville De Goyet, Jean, Francalanci, Paola |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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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 |
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