ReviewTurkish journal of haematology : official journal of Turkish Society of Haematology2012
The molecular genetics of von Willebrand disease.
Review in Turkish journal of haematology : official journal of Turkish Society of Haematology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.Blood vessels, thrombosis & hemostasis · 2025Article
- Conformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.NAR molecular medicine · 2024Article
- Structure and Function of Recombinant versus Plasma-Derived von Willebrand Factor and Impact on Multimer Pharmacokinetics in von Willebrand Disease.Journal of blood medicine · 2022Article
- Inspection of real and imputed genotypes reveled 76 SNPs associated to rear udder height in Holstein cattle.Journal of advanced veterinary and animal research · 2020Article
- [Mutation analysis of VWF gene in two patients with von Willebrand disease by target sequence capture and high-throughput sequencing technology].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2018Article
- [The research progress of Von Willebrand disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2015Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledQuantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD. CONFLICT OF INTEREST: None declared.
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