Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.

Article

Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.

Thrombosis and haemostasis - 1 Mar 1996

Duchemin J, Borg J Y, Borgel D, Vasse M, Lévèque H, Aiach M, Gandrille S

Abstract excerpt

To further elucidate the molecular basis for hereditary thrombophilia, we screened the protein S active gene in 11 families with type I deficiency, using a strategy based on denaturing gradient gel electrophoresis (DGGE) of all the coding sequences. Fragments with an abnormal DGGE pattern were se...

Topics

Adolescent
Adult
Aged
Base Sequence
Child
DNA
France
Genetic Testing
Genome
Humans
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Protein S Deficiency
Thrombosis

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