Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

doi:10.1111/j.1365-2141.1991.tb04457.x

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Article

Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

British journal of haematology - 1 Jul 1991

Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger J N, Alhenc-Gelas M, Priollet P, Aiach M

Abstract excerpt

Antithrombin III (AT III) is an inhibitor of serine protease (serpin) comprising 432 amino acids. Quantitative AT III deficiencies are associated with a high risk of thrombotic disease. Although this risk is smaller in patients with qualitative AT III deficiencies, the molecular defects characterizing the latter have been the subject of many studies. However, in quantitative AT III deficiencies, only three...

Topics

Adolescent
Adult
Antithrombin III
Antithrombin III Deficiency
Base Sequence
Codon
DNA
Exons
Female
Frameshift Mutation
Gene Amplification

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1873224
DOI: 10.1111/j.1365-2141.1991.tb04457.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1873224-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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