New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance.

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Article

New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance.

Thrombosis and haemostasis - 1 Jun 1998

Anwar R, Miloszewski K J, Markham A F

Abstract excerpt

Coagulation factor XIII, a transglutaminase which stabilises blood clots by covalently cross-linking fibrin, is essential for normal haemostasis. FXIII deficiency results in a life-long bleeding disorder with added complications in wound healing and tissue repair. Sequence changes in the human FX...

Topics

Adolescent
Adult
Alleles
DNA Mutational Analysis
Exons
Factor XIII Deficiency
Genes
Genes, Recessive
Homozygote
Humans
Male
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
RNA Splicing
RNA, Messenger
Transcription, Genetic
Transglutaminases

Source

Open in PubMed

Identifiers

PMID: 9657440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9657440-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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