A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.

@article{Jiang2011ANM,
  title={A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.},
  author={Minghua Jiang and Zhaoyue Wang and Ziqiang Yu and Xia Bai and Jian Min Su and Lijuan Cao and Wei Zhang and Chang-geng Ruan},
  journal={Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis},
  year={2011},
  volume={22 4},
  pages={264-70}
}
Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder. Its clinical manifestation and mutational spectrum are highly variable. The purpose of this study was to identify and characterize the mutation causing the FVII deficiency in a Chinese patient and his family. The FVII gene was analyzed by genomic DNA sequencing, and the FVII levels in patient's plasma were measured with an enzyme-linked immunoabsorbent assay (ELISA) and one-stage prothrombin time based… CONTINUE READING