Article
Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII.
Blood - 15 Feb 1999
Hunault M, Arbini A A, Carew J A, Peyvandi F, Bauer K A
Abstract excerpt
We investigated the mechanisms responsible for severe factor VII (FVII) deficiency in homozygous Italian patients with either Gly97Cys or Gln100Arg mutations in the second epidermal growth factor domain of FVII. Transient expression of complementary DNA coding for the mutations in COS-1 cells showed impaired secretion of the mutant molecules. Using stably transfected Chinese hamster ovary (CHO) cells, we...
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