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

Volumn 14, Issue 6, 2015, Pages 933-936

  Praticò, Andrea D ^a   Praticò, Elena R ^a   Rotolo, Novella ^a   Salafia, Stefania ^a   Franzonello, Chiara ^a   Leonardi, Salvatore ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

CFTR; Cystic fibrosis; F508del; IVS8 5T; Liver disease; M470V

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; URSODEOXYCHOLIC ACID; CFTR PROTEIN, HUMAN; GENETIC MARKER;

ADOLESCENT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CFTR GENE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS; CYSTIC FIBROSIS; DISEASE SEVERITY; DOT HYBRIDIZATION; ECHOGRAPHY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; GONADAL AGENESIS; HUMAN; HYPERBILIRUBINEMIA; HYPERTRANSAMINASEMIA; INFERTILITY; JAUNDICE; LIVER BIOPSY; LIVER DISEASE; LUNG INSUFFICIENCY; MALE; NOSE POLYP; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS INSUFFICIENCY; PHYSICAL EXAMINATION; TRANSRECTAL ULTRASONOGRAPHY; DNA MUTATIONAL ANALYSIS; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; LIVER DISEASES; MUTATION; PEDIGREE; PHENOTYPE;

ADOLESCENT; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIVER DISEASES; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84943172363     PISSN: 16652681     EISSN: None     Source Type: Journal    
DOI: 10.5604/16652681.1171787     Document Type: Article

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