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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...

詳細記述

保存先:
書誌詳細
主要な著者: Schneppenheim, R, Brassard, J, Krey, S, Budde, U, Kunicki, T J, Holmberg, L, Ware, J, Ruggeri, Z M
フォーマット: Artigo
言語:Inglês
出版事項: 1996
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC39653/
https://ncbi.nlm.nih.gov/pubmed/8622978
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