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Article

A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period.

Pediatric blood & cancer - 1 Apr 2014

Unal Sule, Gumruk Fatma, Yigit Sule, Tuncer Murat, Tavil Betul, Cil Onur, Takci Sahin, Urata Michiyo, Hotta Taeko, Kang Dongchon, Cetin Mualla

Abstract excerpt

Homozygous protein C deficiency is among rare causes of thrombophilia. Herein, we present a neonate with purpura fulminans, disseminated intravascular coagulation and severe intracranial hemorrhage who was found to have plasma protein C level of 4%. The molecular work-up revealed a novel homozygous mutation of T903C (amino acid position Leu 270 Pro) located in a catalytic domain region of PROC gene. Asymptomatic...

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Source

Identifiers

PMID: 24115609
DOI: 10.1002/pbc.24782

Genes

PROC

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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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