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Article

Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.

British journal of haematology - 1 Dec 1993

Standen G R, Bowen D J

Abstract excerpt

Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 4 of the factor XIII A subunit gene contains two TaqI restriction sites within which arginine (CGA)-->stop (TGA) nonsense mutations are...

Topics

Adult
Base Sequence
Codon
Factor XIII
Factor XIII Deficiency
Female
Humans
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7918041
DOI: 10.1111/j.1365-2141.1993.tb03221.x

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7918041-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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