Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity.

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Article

Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity.

Thrombosis and haemostasis - 1 Jun 1994

Gaussem P, Gandrille S, Duchemin J, Emmerich J, Alhenc-Gelas M, Aillaud M F, Aiach M

Abstract excerpt

The protein C Gla domain was studied in six families presenting a type II hereditary deficiency characterized by low activity in a coagulation assay and normal activity in an amidolytic assay. Five of these mutations, previously described by our group, affected Arg-5, Arg-1, Arg 229 and Ser 252. We report here the first natural Glu 7 to Asp mutation in a sixth family. We evaluated the binding of the mutated...

Topics

1-Carboxyglutamic Acid
Adult
Amino Acid Sequence
Antibodies, Monoclonal
Arginine
Aspartic Acid
Calcium
Chromatography, Ion Exchange
Cysteine
Enzyme-Linked Immunosorbent Assay
Histidine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutation

Protein C

Protein Structure, Tertiary

Source

Open in PubMed

Identifiers

PMID: 7974343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7974343-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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