Mara Toderici

Murcia, MU 00055, Spain

Last Updated: 09/26/2026

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Found 10 publications

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Journal: JCI insight
Published: April 28, 2022

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Journal: Molecular genetics & genomic medicine
Published: February 21, 2020

Correction: Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Correction: Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Journal: Oncotarget
Published: March 16, 2018

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.

Journal: Oncotarget
Published: November 30, 2017

Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.

Journal: Oncotarget
Published: July 03, 2017

High levels of latent antithrombin in plasma from patients with antithrombin deficiency.

High levels of latent antithrombin in plasma from patients with antithrombin deficiency.

Journal: Thrombosis and haemostasis
Published: November 17, 2016

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.

Journal: Scientific reports
Published: October 28, 2016

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.

Journal: PloS one
Published: July 22, 2016

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

Journal: Journal of thrombosis and haemostasis : JTH
Published: January 20, 2016

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.

Journal: PloS one
Published: December 18, 2015
Showing 1-10 of 10

Last Updated: 09/26/2026