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September 10, 2024

[Analysis of two consanguineous Chinese pedigrees affected with Hereditary prokallikrein deficiency and High molecular weight kininogen deficiency].

Bile Chen Zuoting Xie Zhou Zheng Yuan Chen Huilin Chen Mingshan Wang Yanhui Jin

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Abstract

To analyze the laboratory phenotype and genetic variants of two consanguineous Chinese pedigrees affected with Hereditary prokallikrein (PK) and High molecular weight kininogen (HMWK) deficiency and explore their molecular pathogenesis.

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Cite This Study

Chen et al. (2024) studied this question.

synapsesocial.com/papers/68e58ed3b6db64358752a234 https://doi.org/10.3760/cma.j.cn511374-20230901-00105

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genetic and clinical phenotype analysis of a case of high-molecular-weight kininogen deficiency caused by a frameshift mutation c.628_629delAA in the KNG1 geneOriginal Research · 2026
2[Analysis of three Chinese pedigrees affected with Hereditary factor Ⅶ deficiency due to compound heterozygous variants of F7 gene].2024
3Molecular and clinical characterization of two independent Chinese families with protein C deficiency2024
4The complex role of kininogens in hereditary angioedemaOriginal Research · 2022 · 10 citations
5Novel compound heterozygous mutation of the KNG1 gene associated with severe HMWK deficiency in a Chinese pedigreeOriginal Research · 2026 · 1 citations

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