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A new (K1518E) candidate mutation detected by universal heteroduplex generator analysis in a patient with type 2A (phenotype IIA) von Willebrand disease.

Thrombosis and haemostasis - 1 Jan 1998

Enayat M S, Theophilus B D, Hill F G, Rose P E, Culpan D, Bidwell J, Standen G R

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PMID: 9459358

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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→

Click a neighbor to travelStep 1 · 12 closest

A new (K1518E) candidate mutation detected by universal heteroduplex generator analysis in a patient with type 2A (phenotype IIA) von Willebrand disease.PMID 9459358Read ↗

UHG-based mutation screening in type 2B von Willebrand's disease: detection of a candidate mutation Ser547Phe.Semantic proximity Read ↗

Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.Semantic proximity Read ↗

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

Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.Semantic proximity Read ↗

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.Semantic proximity Read ↗

A new candidate missense mutation (Leu 1657 IIe) in an apparently asymptomatic type 2A (phenotype IIA) von Willebrand disease family.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 ↗

Rapid mutation screening in type 2A von Willebrand's disease using universal heteroduplex generators.Semantic proximity Read ↗

Rapid genotype analysis in type 2B von Willebrand's disease using a universal heteroduplex generator.Semantic proximity Read ↗

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.Semantic proximity Read ↗

Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuriaSemantic proximity Read ↗

Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).Semantic proximity Read ↗

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