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Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.

Blood - 1 Jul 1993

Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud M F, Dupuy E, Juhan-Vague I, Aiach M

Abstract excerpt

We describe five families presenting with type II hereditary protein C deficiency characterized by normal antigen and amidolytic activity levels but low anticoagulant activity. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining amplification by the polymerase chain reaction (PCR), denaturing gradient gel electrophoresis of the amplified fragments, and direct...

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PMID: 8324221

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