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Article

Characterization of a splicing mutation in the factor VIII gene at the RNA level.

Human genetics - 1 Jan 1995

David D, Tavares A, Lavinha J

Abstract excerpt

Haemophilia A is an X-linked bleeding disorder caused by mutations in the coagulation factor VIII (FVIII) gene. The identification and characterization of naturally occurring disease-producing mutations allows the recognition of new mechanisms of pathogenesis in haemophilia A. Analysis of the illegitimately transcribed FVIII mRNA in a severely affected patient has revealed that the A-->G transition at position -2...

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Identifiers

PMID: 7814012
DOI: 10.1007/BF00225086

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Characterization of a splicing mutation in the factor VIII gene at the RNA level.PMID 7814012Read ↗

Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracy.Semantic proximity Read ↗

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.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 ↗

F8 mRNA studies in haemophilia A patients with different splice site mutations.Semantic proximity Read ↗

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.Semantic proximity Read ↗

Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.Semantic proximity Read ↗

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.Semantic proximity Read ↗

A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.Semantic proximity Read ↗

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.Semantic proximity Read ↗

The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients' platelets and leukocytes.Semantic proximity Read ↗

A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25.Semantic proximity Read ↗

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.Semantic proximity Read ↗

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