Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

• Main Authors: Silvia Spena, Stefano Duga, Rosanna Asselta, Flora Peyvandi, Chularatana Mahasandana, Massimo Malcovati, Maria Luisa Tenchini
• Other Authors: Universita degli Studi di Milano
• Format: Article
• Published: 2018
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/21124
• Institution: Mahidol University

Among rare inherited deficiencies of coagulation factors, congenital afibrinogenaemia is characterised by the lack of fibrinogen in plasma. In the last few years, several genetic defects underlying afibrinogenaemia (mostly point mutations) have been described in the fibrinogen gene cluster. In this...