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Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.

Thrombosis research - 1 Apr 2015

Kovács Kitti B, Pataki István, Bárdos Helga, Fekete Attila, Pfliegler György, Haramura Gizella, Gindele Réka, Komáromi István, Balla György, Ádány Róza, Muszbek László, Bereczky Zsuzsanna

Abstract excerpt

INTRODUCTION: Protein C (PC) is a major anticoagulant and numerous distinct mutations in its coding gene result in quantitative or qualitative PC deficiency with high thrombosis risk. Homozygous or compound heterozygous PC deficiency usually leads to life-threatening thrombosis in neonates. PATIENTS AND METHODS: The molecular consequences of 3 different missense mutations of two patients have been investigated....

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PMID: 25618265
DOI: 10.1016/j.thromres.2015.01.011

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