Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.

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Article

Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.

Blood - 1 Jul 1993

Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud M F, Dupuy E, Juhan-Vague I, Aiach M

Abstract excerpt

We describe five families presenting with type II hereditary protein C deficiency characterized by normal antigen and amidolytic activity levels but low anticoagulant activity. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining amplification by t...

Topics

Amino Acid Sequence
Base Sequence
Blood Coagulation Disorders
Exons
Female
Gene Expression
Genes
Humans
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Pedigree
Protein C
RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 8324221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8324221-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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