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

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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...

Topics

Base Sequence
Chorionic Villi Sampling
Consanguinity
Female
Fetal Diseases
Genotype
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutagenesis, Insertional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymorphism, Single-Stranded Conformational

Protein C

Protein C Deficiency

Purpura

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 7841323

Genes

PROC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7841323-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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

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

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

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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 ↗

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[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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