A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001658
Abstract: Background: Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known. Observation: The present study reports on 2… read more here.
Keywords: afibrinogenemia; mutation fga; frameshift mutation; congenital afibrinogenemia ... See more keywords
Afibrinogenemia with two compound heterozygous mutations in FGA gene
Sign Up to like & getrecommendations! Published in 2021 at "Haemophilia"
DOI: 10.1111/hae.14377
Abstract: Fibrinogen is a 340 kDa hexameric glycoprotein synthetized by hepatocytes. It is composed by three polypeptide chains Aα, Bβ, and γ.1 Three genes are implicated in fibrinogen synthesis: FGA, FGB, and FGG for Aα, Bβ… read more here.
Keywords: fibrinogen; two compound; afibrinogenemia two; afibrinogenemia ... See more keywords