Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease

Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis...

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Bibliographic Details
Main Authors: Andrea D. Praticò, M.D., Elena R. Praticò, Novella Rotolo, Stefania Salafia, Chiara Franzonello, Salvatore Leonardi
Format: Article
Language:English
Published: Elsevier 2015-11-01
Series:Annals of Hepatology
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Online Access:http://www.sciencedirect.com/science/article/pii/S1665268119309652