Six different point mutations in seven Danish families with symptomatic protein C deficiency.

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Article

Six different point mutations in seven Danish families with symptomatic protein C deficiency.

Thrombosis and haemostasis - 1 Feb 1995

Lind B, Schwartz M, Thorsen S

Abstract excerpt

Six different point mutations of the protein C gene are described in seven Danish families with protein C deficiency associated with an increased risk of venous thromboembolism. All affected family members are heterozygotes for the mutated protein C genotype. One mutation is a G2992-->A transition at position +5 in the 5' splice site of intron D. The other five mutations affect the protein coding region. One is a...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Blotting, Southern
Denmark
Family
Female
Genotype
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Pedigree

Point Mutation

Protein C

Protein C Deficiency

Source

Open in PubMed

Identifiers

PMID: 7792728

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7792728-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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