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Haematologica, Vol 89, Issue 4, 501-502
Copyright © 2004 by Ferrata Storti Foundation

Case Reports

Molecular characterization of factor X deficiency associated with borderline plasma factor X level

M Pinotti, M Monti, M Baroni, G Marchetti, and F Bernardi

Borderline plasma factor X (FX) levels might complicate the diagnosis of FX deficiency. An asymptomatic individual with 73% FX activity was identified to be heterozygous for the Val342Ala mutation. Expression studies suggested that this substitution is responsible for a CRM+ FX variant with normal activation but modestly reduced catalytic function.




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Copyright © 2004 by the Ferrata Storti Foundation.