Article
Factor VII Tokushima: the first case of factor VII Cys22Gly with the development of myocardial infarction in the proband receiving recombinant factor VIIa replacement therapy.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2015
Shigekiyo Toshio, Sekimoto Etsuko, Shibata Hironobu, Ozaki Shuji, Okumura Takanobu, Fujinaga Hiroyuki, Shibata Hiroshi, Aihara Ken-ichi, Akaike Masashi
Abstract excerpt
An 81-year-old man was referred to our department because of suspected factor VII (FVII) deficiency. His FVII activity was under 1%, whereas the FVII activity levels of his son and granddaughter were 65 and 109%, respectively. The nucleotide at position 3886 of his FVII gene was homozygous for G. A single T to G substitution results in the replacement of wild-type Cys at residue 22 by Gly. His son was...
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