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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

-д хэвлэсэн:	Proc Natl Acad Sci U S A
Үндсэн зохиолчид:	Schneppenheim, R, Brassard, J, Krey, S, Budde, U, Kunicki, T J, Holmberg, L, Ware, J, Ruggeri, Z M
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	National Academy of Sciences 1996
Нөхцлүүд:	Research Article
Онлайн хандалт:	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
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!