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Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1993

Tsay W, Greengard J S, Montgomery R R, McPherson R A, Fucci J C, Koerper M A, Coughlin J, Griffin J H

Abstract excerpt

Symptomatic patients with Type 1 protein C deficiency and venous thrombosis were analysed for defects in this gene using polymerase chain reaction amplification and direct sequencing of all nine exons. Ten different heterozygous point mutations were detected in 19 patients from eleven American families. Seven represent novel mutations. Two of these were found in the TATA box or near the transcription initiation...

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PMID: 8292730

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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