about
Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?Evaluation of Novel Platelet Polymorphisms in Stroke. Dichotomic Effect of rs5443 in GNB3.Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemiaFunctional consequences of the prothrombotic SERPINC1 rs2227589 polymorphism on antithrombin levelsHermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.Novel cassette-based shuttle vector system for gram-positive bacteria.Antithrombin controls tumor migration, invasion and angiogenesis by inhibition of enteropeptidase.Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.CALU A29809G polymorphism in coronary atherothrombosis: Implications for coronary calcification and prognosis.Pharmacogenetics of acenocoumarol in patients with extreme dose requirements.Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause.Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Rare homozygous status of P43 β1-tubulin polymorphism causes alterations in platelet ultrastructure.Genotype-guided therapy improves initial acenocoumarol dosing. Results from a prospective randomised study.Creating a genotype-based dosing algorithm for acenocoumarol steady dose.Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment.Impaired leucocyte activation is underlining the lower thrombotic risk of essential thrombocythaemia patients with CALR mutations as compared with those with the JAK2 mutation.The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms.Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiencyRegulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiencyStudy of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disordersInfluence of the F12 -4 C>T polymorphism on hemostatic tests
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description
researcher ORCID ID = 0000-0003-1527-6096
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wetenschapper
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name
Ana I Anton
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Ana I Anton
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Ana I Anton
@es
Ana I Anton
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type
label
Ana I Anton
@ast
Ana I Anton
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Ana I Anton
@es
Ana I Anton
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prefLabel
Ana I Anton
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Ana I Anton
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Ana I Anton
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Ana I Anton
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P106
P21
P31
P496
0000-0003-1527-6096
P6023
2080587206