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Article

A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.

Genomics - 1 Nov 1994

Mertes G, Ludwig M, Finkelnburg B, Krawczak M, Schwaab R, Brackmann H H, Olek K

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Identifiers

PMID: 7896280
DOI: 10.1006/geno.1994.1602

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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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.PMID 7896280Read ↗

Identification of a novel candidate splice site mutation (0874 + 1G > A) in a type 3 von Willebrand disease patient.Semantic proximity Read ↗

3' Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype.Semantic proximity Read ↗

An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.Semantic proximity Read ↗

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

Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.Semantic proximity Read ↗

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.Semantic proximity Read ↗

A stop codon in a patient with severe type III von Willebrand disease.Semantic proximity Read ↗

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.Semantic proximity Read ↗

A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).Semantic proximity Read ↗

Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease.Semantic proximity Read ↗

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.Semantic proximity Read ↗

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