About
Contact & Profiles
A5091427778
Research Areas
- Platelet Disorders and Treatments
- Monoclonal and Polyclonal Antibodies Research
- Blood properties and coagulation
- Hemophilia Treatment and Research
- Radiopharmaceutical Chemistry and Applications
- Receptor Mechanisms and Signaling
Ruijin Hospital
2023-2024
Shanghai Jiao Tong University
2023
Summary Hereditary factor VII (FVII) deficiency is a rare recessive bleeding disorder with an estimated prevalence of 1/500 000. We had investigated 50 unrelated Chinese patients FVII and identified, in total, 25 mutations, including 18 missense mutations 5 splicing on the F7 gene. The nucleotide transition c.1224T>G (p.His408Gln) exon 9 constitutes hotspot mutation, 19 harbouring this genetic variance. Few were homozygous or compound heterozygous for deleterious such as non‐sense large...
10.1111/bjh.18768
article
EN
British Journal of Haematology
2023-03-23
10.1016/j.jtha.2024.04.015
article
EN
Journal of Thrombosis and Haemostasis
2024-05-03
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