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Article

Novel point mutations leading to type 1 antithrombin deficiency and thrombosis.

British journal of haematology - 1 Jul 1991

Olds R J, Lane D A, Ireland H, Leone G, De Stefano V, Wiesel M L, Cazenave J P, Thein S L

Abstract excerpt

Direct sequencing of antithrombin III (AT) gene fragments specifically amplified by the polymerase chain reaction was utilized to identify the molecular basis of type 1 AT deficiency in two unrelated kindreds, both with thrombotic disease. Two novel point mutations were identified, deletion of a T from the second position of codon 81 in one propositus and insertion of a G in codon 424 in the second kindred. The...

Topics

Adult
Amino Acid Sequence
Antithrombin III
Antithrombin III Deficiency
Base Sequence
Child
DNA
DNA Mutational Analysis
DNA, Single-Stranded
Exons
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Restriction Mapping

Source

Identifiers

PMID: 1873223
DOI: 10.1111/j.1365-2141.1991.tb04456.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1873223-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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