First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484-->Pro, in the protein S active gene (PROS1).

Abstract excerpt

In a series of 16 propositi with symptomatic protein S deficiency and a protein S gene mutation, we identified a sporadic case of a novel mutation that probably affects gene expression. The mutation, a G to C transversion leading to the substitution of Ala 484 by Pro, was not found in the protein...

Topics

• Alanine
• Alleles
• Animals
• Cattle
• Humans
• Mice
• Point Mutation
• Polymorphism, Genetic
• Proline
• Protein C
• Protein S
• Protein S Deficiency
• Rats