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Article

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.

Thrombosis and haemostasis - 1 Nov 1995

Soria J M, Morell M, Jiménez-Astorga C, Estivill X, Sala N

Abstract excerpt

We report the genetic abnormalities in the protein C genes of a Spanish child with neonatal purpura fulminans and disseminated intravascular coagulation, associated with undetectable protein C levels. Direct sequencing of the nine protein C gene exons and their splice junctions indicated that the...

Topics

Alleles
Base Sequence
Child
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Polymorphism, Genetic
Protein C
Protein C Deficiency
Purpura
Sequence Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spain

Source

Identifiers

PMID: 8607097

Genes

EGF
PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8607097-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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