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Article

Symptomatic hereditary type-II protein C deficiency caused by a missense mutation in exon IX of the protein C gene (Gly381 to Ser).

Annals of hematology - 1 May 1994

Wittmann E, Walter J, Pabinger-Fasching I, Watzke H H

Abstract excerpt

We report the characterization of the genetic defect in a family with hereditary type-II protein C (PC) deficiency. The propositus is a 28-year-old woman with a history of thrombosis. Her PC activity level (58%) and PC antigen level (115%) are compatible with the diagnosis of type-II PC deficiency. Her asymptomatic sister is also PC deficient. Analysis of the PC gene of the propositus revealed a point mutation (G...

Topics

Adult
Amino Acid Sequence
Base Sequence
Binding Sites
Female
Genotype
Humans
Male
Molecular Sequence Data
Point Mutation
Protein C
Protein C Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Restriction Mapping

Serine

Source

Identifiers

PMID: 8018768
DOI: 10.1007/BF01737427

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8018768-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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