Article
Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease.
Annals of hepatology - 1 Jan 2000
Praticò Andrea D, Praticò Elena R, Rotolo Novella, Salafia Stefania, Franzonello Chiara, Leonardi Salvatore
Abstract excerpt
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), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a...
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