Related references
Note: Only part of the references are listed.Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency
Belen de la Morena-Barrio et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2022)
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency
Belen De La Morena-Barrio et al.
THROMBOSIS AND HAEMOSTASIS (2022)
The influence of evolutionary history on human health and disease
Mary Lauren Benton et al.
NATURE REVIEWS GENETICS (2021)
Genomic Variation Prediction: A Summary From Different Views
Xiuchun Lin
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH
Elizabeth M. Van Cott et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2020)
Entering the Modern Era of Gene Therapy
Xavier M. Anguela et al.
ANNUAL REVIEW OF MEDICINE, VOL 70 (2019)
Management of antithrombin deficiency: an update for clinicians
Carlos Bravo-Perez et al.
EXPERT REVIEW OF HEMATOLOGY (2019)
Next-Generation Sequencing Technologies
W. Richard McCombie et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2019)
Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6
Belen de la Morena-Barrio et al.
THROMBOSIS AND HAEMOSTASIS (2018)
Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency (vol 11, e0152159, 2016)
Mara Toderici et al.
PLOS ONE (2016)
A decade of structural variants: description, history and methods to detect structural variation
Georgia Escaramis et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
Liborio Stuppia et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance
I. Martinez-Martinez et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2012)
Low borderline plasma levels of antithrombin, protein C and protein S are risk factors for venous thromboembolism
P. Bucciarelli et al.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2012)
Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency
Maria Eugenia de la Morena-Barrio et al.
THROMBOSIS AND HAEMOSTASIS (2012)
Molecular basis of antithrombin deficiency
Beate Luxembourg et al.
THROMBOSIS AND HAEMOSTASIS (2011)
Structural variation in the human genome
L Feuk et al.
NATURE REVIEWS GENETICS (2006)
Share Paper
