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Article

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Aug 1994

Millar D S, Allgrove J, Rodeck C, Kakkar V V, Cooper D N

Abstract excerpt

A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. The deletion/insertion mutation found [3351del4, 3350insA] resulted in an Asn102-->Lys substitution and the removal of codon Gly103. First trimester prenatal diagnosis was performed in a subsequent pregnancy by chorionic villus sampling and...

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

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Source

Identifiers

PMID: 7841323

Genes

PROC

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.PMID 7841323Read ↗

A Novel Protein C Mutation Causing Neonatal Purpura Fulminans.Semantic proximity Read ↗

A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans.Semantic proximity Read ↗

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].Semantic proximity Read ↗

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

Protein C (PROC) gene mutations in two Indian families with purpura fulminans.Semantic proximity Read ↗

Molecular characterization of novel splice site mutation causing protein C deficiency.Semantic proximity Read ↗

Severe type I protein C deficiency with neonatal purpura fulminans due to a novel homozygous mutation in exon 6 of the protein C gene.Semantic proximity Read ↗

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

A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.Semantic proximity Read ↗

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency due to heterozygous deletional mutation of PROC gene].Semantic proximity Read ↗

[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency].Semantic proximity Read ↗

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

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