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- Title
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.
- Authors
Duga, S; Braidotti, P; Asselta, R; Maggioni, M; Santagostino, E; Pellegrini, C; Coggi, G; Malcovati, M; Tenchini, M L
- Abstract
Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. Their genetic bases are represented by mutations within the three fibrinogen genes. Among the 11 reported missense mutations, a few have been characterized by expression studies and found to have an impaired fibrinogen assembly and/or secretion. Histopathological analyses were previously reported in two hypofibrinogenemic cases with discernible hepatic disease, revealing that both underlying mutations (gamma-Gly284Arg and gamma-Arg375Trp) were associated with hepatic fibrinogen endoplasmic reticulum storage disease (ERSD).
- Publication
Journal of thrombosis and haemostasis : JTH, 2005, Vol 3, Issue 4, p724
- ISSN
1538-7933
- Publication type
Journal Article
- DOI
10.1111/j.1538-7836.2005.01229.x