Abstract
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.
Vol. 89 No. 4 (2004): April, 2004 : Case Reports
Published By
Ferrata Storti Foundation, Pavia, Italy
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