Novel point mutation in fibrinogen (Innsbruck; BβArg44Gly). Phenotypic differences compared to another mutation (fibrinogen Nijmegen) at the same position.

Abstract excerpt

This is a report of a novel fibrinogen point mutation (fibrinogen Innsbruck), a C/G point mutation at position 220 of exon two of the fibrinogen Bβ-chain leading to BβArg44Gly. The heterozygous mutation was found in a 16-year-old adolescent, hospitalized for the management of juvenile depression, who suffered from multiple epistaxis episodes during his stay at the university hospital in Innsbruck, Austria....

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