Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.

doi:10.1159/000217461

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Article

Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.

Haemostasis - 1 Jan 2000

Messiaen L, Callens T, Baele G

Abstract excerpt

Hereditary protein S deficiency is a risk factor for developing recurrent venous thromboembolic disease and is caused by a defect in the protein S 1 (PROS1) gene. Identification of the mutation in the PROS1 gene can overcome diagnostic uncertainty in family members with borderline protein S level...

Topics

Adolescent
Adult
Aged
Amino Acid Sequence
Child
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Protein S
Protein S Deficiency
Sequence Analysis

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