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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 FXIIIA gene, largely missense mutations, are primarily responsible for inherited FXIII deficiency. We have carried out...

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PMID: 9657440

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance.PMID 9657440Read ↗

Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function.Semantic proximity Read ↗

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.Semantic proximity Read ↗

Identification of a novel mutation combination in factor XIII deficiency: genetic update to the first reported case in the United States.Semantic proximity Read ↗

The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.Semantic proximity Read ↗

Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levelsSemantic proximity Read ↗

Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.Semantic proximity Read ↗

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.Semantic proximity Read ↗

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.Semantic proximity Read ↗

Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesisSemantic proximity Read ↗

Allele-specific alternative splicing; the tail of FXIII-B tells its own tale.Semantic proximity Read ↗

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.Semantic proximity Read ↗

Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.Semantic proximity Read ↗

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