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Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.

The same heterozygous T -> C transition at nt 8567 of the von Willebrand factor (vWF) transcript was found in two unrelated patients with type III) von Willebrand disease, with no other apparent abnormality. In one family, both alleles were normal in the parents and one sister; thus, the mutation or...

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Published in:Proc Natl Acad Sci U S A
Main Authors: Schneppenheim, R, Brassard, J, Krey, S, Budde, U, Kunicki, T J, Holmberg, L, Ware, J, Ruggeri, Z M
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 1996
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC39653/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8622978/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.93.8.3581
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