Clinical and genetic spectrum of factor XII deficiency in the Han population of East China

We speculate on the potential impact of recurrent mutations on the efficacy of new drugs being developed to target FXII for thrombosis prevention and treatment. Furthermore, it is important to explore their influence on FXII-related pathways beyond the activation of the contact pathway in the coagulation cascade.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2024-10-09
DOI
https://doi.org/10.1186/s13023-024-03404-6
Citations
2
Primary Topic
Coagulation, Bradykinin, Polyphosphates, and Angioedema
Type
article
Field-Weighted Citation Impact
0.88
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article

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China

Bile Chen, Lingling Hou, Mingshan Wang, L Qin et al.
2 citations
Orphanet Journal of Rare Diseases
Coagulation, Bradykinin, Polyphosphates, and Angioedema
0.88
article

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China

Bile Chen, Lingling Hou, Mingshan Wang, L Qin, Anqing Zou, Fei Xu
article en
2 citations

Abstract

We speculate on the potential impact of recurrent mutations on the efficacy of new drugs being developed to target FXII for thrombosis prevention and treatment. Furthermore, it is important to explore their influence on FXII-related pathways beyond the activation of the contact pathway in the coagulation cascade.

Orphanet Journal of Rare DiseasesVol. 19(1)
Wenzhou Medical University (CN), First Affiliated Hospital of Wenzhou Medical University (CN)
Openalex Percentile: Top 24%
Coagulation, Bradykinin, Polyphosphates, and Angioedema
0.88
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