A novel frameshift mutation in the fibrinogen γC terminal region, FGG c.1169_1170 del AT, leading to hypofibrinogenemia. Issue 159 (November 2017)

• Record Type: Journal Article
• Authors: Nagata, Kazuhiro; Arai, Shinpei; Taira, Chiaki; Sugano, Mitsutoshi; Honda, Takayuki; Okumura, Nobuo
• Is Part Of: Thrombosis research. Issue 159(2017)
• Page Start: 82
• Page End: 85
• Publication Date: 2017-11
• Subjects: Thrombosis -- Periodicals; 616.135
• DOI: 10.1016/j.thromres.2017.10.002
• Languages: English
• ISSNs: 0049-3848

Abstract

Highlights: We encountered a novel hypofibrinogenemia patient. The patient had a heterozygous nucleotide deletion with FGG c.1169_1170 del AT. This resulted in a frameshift (FS) mutation between codons 364 and 422 in the γ-chain. This also resulted in a FS mutation between codons 364 and 418 in the γ'-chain. These FS mutations did not synthesize the variant fibrinogen in CHO cell lines.