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Article

Homozygous protein C deficiency with a double variant His 202 to Tyr and Ala 346 to Thr.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 1998

Kemahli S, Alhenc-Gelas M, Gandrille S, Aiach M, Akar N, Cin S

Abstract excerpt

We present the protein C gene analysis of a patient with homozygous protein C deficiency. The patient was referred with purpura fulminans 3 h after birth. Skin necroses had developed on the scalp, abdomen and upper extremities when he was two days old. His protein C activity was 0.03-0.05 IU/ml and the levels in his consanguineous parents were 0.32 and 0.40 IU/ml. He was treated initially with fresh frozen...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9690806
DOI: 10.1097/00001721-199806000-00007

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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