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Article

Rapid detection of a protein C gene mutation present in the asymptomatic and not in the thrombosis-prone lineage.

British journal of haematology - 1 Jun 1992

Bernardi F, Patracchini P, Gemmati D, Boninsegna S, Guerra S, Legnani C, Ballerini G, Marchetti G

Abstract excerpt

The presence of mutations in the serine protease domain of protein C was investigated by temperature gradient gel electrophoresis of PCR products in five patients with protein C deficiency and thrombosis. Molecules with an altered melting behaviour were detected in one subject with a history of venous and arterial thrombosis. Direct sequencing showed that a G deletion, present in the heterozygous state, caused a...

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Identifiers

PMID: 1643025
DOI: 10.1111/j.1365-2141.1992.tb08220.x

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