Javier Corral

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Spain

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Recent Grants

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Secuenciación de 4ª generación con nanoporos en el diagnóstico de enfermedades genéticas

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Detección de retrotransposones en el genoma humano empleando secuenciación de cuarta generación: utilidad diagnóstica e implicaciones genéticas

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Proyecto Agenesia: estudio multicéntrico clínico y molecular de pacientes con agenesia de vena cava inferior para la identificación de nuevas trombofilias congénitas

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Nueva aproximación multiómica e integrativa para investigar la deficiencia de antitrombina

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Inhibición del FXI de la coagulación mediante edición génica mediada por CRISPR-Cas9 y virus adenoasociados como nueva terapia antitrombótica segura y permanente

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Articles (11)

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2024

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2023

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2022

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2022

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2022

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2021

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2021

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2021

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2021

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2021

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2021

Collaborators (3)

Katrien Stouffs

Vrije Universiteit Brussel

BELGIUM

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Michał Ząbczyk

Jagiellonian University Medical College

POLAND

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Gonzalo Rubio

Profesor Titular de Universidad

Universidad de Murcia

SPAIN

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Javier Corral

Research Interests

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Recent Grants

Articles (11)

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.

Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.

New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Anticoagulant therapy in patients with congenital FXI deficiency.

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.

Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients.

A pilot study on the impact of congenital thrombophilia in COVID-19.

Collaborators (3)

Katrien Stouffs

Michał Ząbczyk

Gonzalo Rubio

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