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- Title
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.
- Authors
Couzens, Alexander; Lebreton, Aurélien; Masclaux, Frédéric; Guipponi, Michel; Pebrel‐Richard, Céline; Laffargue, Fanny; Gembara, Piotr; Casini, Alessandro; Neerman‐Arbez, Marguerite
- Abstract
The large deletion encompasses 48 protein-coding genes including the three fibrinogen-encoding genes I FGA i , I FGB i and I FGG i as well as candidate genes for neurodevelopmental disorders: I TDO2, GRIA2, GLRB, NPY1R, NPY5R i (Figure 1). A preoperative coagulation assay had identified a low fibrinogen level of.7 g/L (Clauss method) but the surgery was not complicated by any significant bleeding even in the absence of fibrinogen substitution. Fibrinogen is involved in numerous physiological processes, most notably the formation of a stable blood clot.
- Subjects
FIBRINOGEN; GENE clusters; PROTEOLYSIS
- Publication
Haemophilia, 2022, Vol 28, Issue 5, pe132
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.14621