Associated Papers
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.
Donner J et al.
Plos Genetics, 2023
The Genetics of Hereditary Angioedema: A Review.
Santacroce R et al.
Journal of Clinical Medicine, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to Europeans.
Adenaeuer A et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
An update on the genetics and pathogenesis of hereditary angioedema.
Banday AZ et al.
Genes & Diseases, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.
Veronez CL et al.
Frontiers in Medicine, 2019
A structure-function analysis in patients with prekallikrein deficiency.
Girolami A et al.
Hematology (amsterdam, Netherlands), 2018
Homozygous Prekallikrein Deficiency in the USA: Several Patients but Still Few Mutation Studies.
Girolami A et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0
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