Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.

Article

Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.

Thrombosis and haemostasis - 1 Dec 1994

Poort S R, Michiels J J, Reitsma P H, Bertina R M

Abstract excerpt

A patient with a severe bleeding tendency and hypoprothrombinemia (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his prothrombin gene. Direct sequencing of PCR fragments derived from the coding and flanking regions of the prothrombin gene, revealed t...

Topics

Adenine
Base Composition
Base Sequence
Exons
Female
Guanine
Hemorrhage
Homozygote
Humans
Hypoprothrombinemias
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Prothrombin

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