Article
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.
Thrombosis and haemostasis - 1 Dec 2000
Akhavan S, Mannucci P M, Lak M, Mancuso G, Mazzucconi M G, Rocino A, Jenkins P V, Perkins S J
Abstract excerpt
Prothrombin deficiency is an autosomal recessive disorder associated with a moderately severe bleeding tendency. In this study, 13 patients with prothrombin deficiency were screened for the presence of alterations in the prothrombin gene, and nine novel candidate mutations were identified. Of 11 patients with hypoprothrombinemia, ten are homozygous for five mutations and one patient is a compound heterozygote....
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