The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Article

The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Blood - 15 Aug 1991

Reitsma P H, Poort S R, Allaart C F, Briët E, Bertina R M

Abstract excerpt

Heterozygosity for protein C deficiency is associated with thromboembolic episodes, but clinical symptoms are nonrandomly distributed among protein C deficient families. This finding has led to the provisional definition of clinically dominant and clinically recessive protein C deficiency. We rep...

Topics

Base Sequence
Heterozygote
Humans
Molecular Sequence Data
Mutation
Netherlands
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Protein C
Protein C Deficiency

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.