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Article

Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.

Blood - 15 Mar 1992

Bovill E G, Tomczak J A, Grant B, Bhushan F, Pillemer E, Rainville I R, Long G L

Abstract excerpt

This study investigates type II protein C deficiency in a family with manifestations of both arterial and venous thrombosis. Of 64 members of the kindred, 14 have been tested and 7 have PC deficiency. Among affected individuals (n = 7), mean protein C levels by different assays were as follows: enzyme-linked immunosorbent assay (ELISA), 3.8 micrograms/mL (2.1 to 4.3 micrograms/mL); amidolytic with venom...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child, Preschool
Female
Glutamates
Glutamic Acid
Humans
Male
Middle Aged
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

Protein C

Protein C Deficiency

Thrombophlebitis

Source

Identifiers

PMID: 1347706

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1347706-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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