Clinical and molecular characterization by next generation sequencing of Spanish patients affected by congenital deficiencies of fibrinogen. Issue 180 (August 2019)

• Record Type: Journal Article
• Authors: Moret, Andrés; Zúñiga, Ángel; Ibáñez, Mariam; Cid, Ana Rosa; Haya, Saturnino; Ferrando, Fernando; Blanquer, Amando; Cervera, José; Bonanad, Santiago
• Is Part Of: Thrombosis research. Issue 180(2019)
• Page Start: 115
• Page End: 117
• Publication Date: 2019-08
• Subjects: Blood coagulation disorders -- Fibrinogen -- Fibrinogen deficiency -- Genetics -- High-throughput nucleotide sequencing; Thrombosis -- Periodicals; 616.135
• DOI: 10.1016/j.thromres.2019.06.015
• Languages: English
• ISSNs: 0049-3848

Abstract

Highlights: Fibrinogen quantity or quality deficiency can lead both to bleeding and thrombotic phenotype. Fibrinogen FGA, FGB and FGG genes were sequenced in 17 patients by next-generation sequencing. Variants leading to fibrinogen deficiency were found in all patients. Eight novel variants were described.