Article
A frameshift mutation in Exon V of the A alpha-chain gene leading to truncated A alpha-chains in the homozygous dysfibrinogen Milano III
1 Dec 1994
Abstract excerpt
An inherited dysfunctional fibrinogen variant, denoted as fibrinogen Milano III, was found in a 13-year-old girl suffering from recurrent venous thrombosis. Plasma of the patient exhibited prolonged thrombin time and Reptilase time. Polymerization of fibrin monomers in the presence and absence of calcium ions was strongly impaired. SDS-polyacrylamide gel electrophoresis of reduced fibrinogen showed normal B beta-...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
