Associated Papers
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched GLA gene variants of uncertain significance.
Rychlík I et al.
Clinical Kidney Journal, 2025
GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.
Ghosh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
Hao Z et al.
Blood, 2021
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
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