Detalhe da pesquisa
1.
An AsCas12f-based compact genome-editing tool derived by deep mutational scanning and structural analysis.
Cell
; 186(22): 4920-4935.e23, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776859
2.
Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics.
Thromb Res
; 230: 18-26, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607435
3.
Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.
Int J Hematol
; 117(4): 523-529, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526880
4.
Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate.
Int J Hematol
; 111(1): 51-56, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31667683
5.
Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles.
Thromb Res
; 233: 37-40, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995440
6.
Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1.
Thromb Res
; 229: 26-30, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37390525
7.
Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC.
Thromb Res
; 188: 115-118, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32199175