title: Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease.
abstract: Fibrinogen storage in liver cells can occur under three different morphological inclusions. Type I contain all three fibrinogen chains (A alpha, B beta, and gamma) as well as D and E fragments, whereas type II and III lack B beta as well as D and E fragments. Patients with type I inclusions carry a point mutation (gamma 284 Gly-Arg). The mutation is not present in patients with type II and III inclusions. These results appear to suggest that the three various phenotypic expressions (i.e., morphological variants) reflect different genetical abnormalities of fibrinogen.
authors.affiliation: Molecular Pathology Laboratories, Spedali Civili Brescia, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Medicina
authors.forename: G
authors.initials: G
authors.lastname: Fabbretti
authors.forename: S O
authors.initials: SO
authors.lastname: Brennan
authors.forename: P M
authors.initials: PM
authors.lastname: George
authors.forename: B
authors.initials: B
authors.lastname: Kudryk
authors.forename: F
authors.initials: F
authors.lastname: Callea
mesh_terms: D005340:Fibrinogen / Q000235:genetics* / Q000276:immunology* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008099:Liver / Q000378:metabolism*; D008103:Liver Cirrhosis / Q000235:genetics; D008107:Liver Diseases / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
chemical_list: D005340:Fibrinogen