A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia
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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