Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis.

doi:10.1016/0049-3848(94)90112-0

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Article

Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis.

Thrombosis research - 1 May 1994

Tomczak J A, Ando R A, Sobel H G, Bovill E G, Long G L

Abstract excerpt

A previously described large Vermont kindred possessing a high incidence of venous thromboembolism with associated Type I protein C deficiency (1) has been genetically analyzed. All nine exons of the protein C gene, including both coding and non-coding regions, have been amplified from blood cell...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Southern
Female
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Protein C
Protein C Deficiency
Thrombosis

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