Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII.

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 sho...

Topics

Animals
CHO Cells
Cricetinae
Epidermal Growth Factor
Factor VII
Factor VII Deficiency
Gene Expression
Gene Transfer Techniques
Humans
Italy
Mutation

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