[Analysis of two consanguineous Chinese pedigrees affected with Hereditary prokallikrein deficiency and High molecular weight kininogen deficiency].
The c.417_418insCATTCTTA (p.Arg140Hisfs*3) variant of the KLKB1 gene and the c.460C>A (p.Pro154Thr) variant of the KNG1 gene probably underlay the decreased PK and HMWK activities in the two pedigrees, respectively.
Authors
- Bile Chen
- Huilin Chen (ORCID: https://orcid.org/0000-0002-1573-6673)
- Yuan Chen (ORCID: https://orcid.org/0000-0002-8088-1471)
- Zuoting Xie
- Yanhui Jin
- Zhou Zheng (ORCID: https://orcid.org/0009-0000-6407-9879)
- Mingshan Wang
Institutions
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230901-00105
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article