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The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.01033
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- Publication type:
- Article
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
- Published in:
- 2023
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- Publication type:
- Case Study
N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 516, doi. 10.3390/ijms22020516
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- Publication type:
- Article
Scalable production of tissue-like vascularized liver organoids from human PSCs.
- Published in:
- Experimental & Molecular Medicine EMM, 2023, v. 55, n. 9, p. 2005, doi. 10.1038/s12276-023-01074-1
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- Publication type:
- Article
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 2, p. 216, doi. 10.1002/ajh.26413
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- Publication type:
- Article
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
- Published in:
- Scientific Reports, 2017, p. 44556, doi. 10.1038/srep44556
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- Publication type:
- Article
Identification of Antithrombin-Modulating Genes. Role of <i>LARGE</i>, a Gene Encoding a Bifunctional Glycosyltransferase, in the Secretion of Proteins?
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064998
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- Publication type:
- Article
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.
- Published in:
- PLoS ONE, 2024, v. 19, n. 7, p. 1, doi. 10.1371/journal.pone.0304451
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- Publication type:
- Article
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.
- Published in:
- 2020
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- Publication type:
- journal article
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 5, doi. 10.1002/jimd.12024
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- Publication type:
- Article
Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85906-y
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- Publication type:
- Article
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
- Published in:
- 2016
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- Publication type:
- Correction Notice
Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
- Published in:
- 2016
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- Publication type:
- Correction Notice
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158863
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- Publication type:
- Article
Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152159
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- Publication type:
- Article
The Infective Polymerization of Conformationally Unstable Antithrombin Mutants May Play a Role in the Clinical Severity of Antithrombin Deficiency.
- Published in:
- Molecular Medicine, 2012, v. 18, n. 5, p. 762, doi. 10.2119/molmed.2012.00017
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- Publication type:
- Article
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
- Published in:
- Glycobiology, 2022, v. 32, n. 2, p. 84, doi. 10.1093/glycob/cwab087
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- Publication type:
- Article
New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.
- Published in:
- Polish Archives of Internal Medicine, 2022, v. 132, n. 1, p. 1, doi. 10.20452/pamw.16158
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- Publication type:
- Article
Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16270, doi. 10.3390/ijms242216270
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- Publication type:
- Article
Lost in translation: bioinformatic analysis of variations affecting the translation initiation codon in the human genome.
- Published in:
- Bioinformatics, 2018, v. 34, n. 22, p. 3788, doi. 10.1093/bioinformatics/bty453
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- Publication type:
- Article