Detalhe da pesquisa
1.
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
JCI Insight
; 7(19)2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214221
2.
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
Mol Genet Genomic Med
; 8(8): e1304, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32530140
3.
Correction: Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.
Oncotarget
; 9(13): 11428, 2018 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29542734
4.
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family.
Oncotarget
; 9(69): 33202-33214, 2018 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237862
5.
Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.
Oncotarget
; 8(48): 84417-84425, 2017 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137435
6.
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
Sci Rep
; 7: 44556, 2017 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303970
7.
High levels of latent antithrombin in plasma from patients with antithrombin deficiency.
Thromb Haemost
; 117(5): 880-888, 2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229161
8.
Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
PLoS One
; 11(7): e0159987, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441845
9.
Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
PLoS One
; 11(3): e0152159, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003919