Associated Papers
Diagnosing protein S deficiency - Navigating challenges.
Hansen RS et al.
Clinical Biochemistry, 2025
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
37317877 (PubMed )
Supplement: 2023_282913_DELAMARE_SUPPL.pdf
Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.
Larsen OH et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Lee EJ et al.
Blood Advances, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
Córdoba M et al.
Clinical Genetics, 2015
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region.
Jin C et al.
Molecular Vision, 2010
Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
Hurtado B et al.
Haematologica, 2008
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