Detalhe da pesquisa
1.
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Blood Cells Mol Dis
; 87: 102527, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341511
2.
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion
; 61(8): 2468-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110623
3.
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203920
4.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Hum Mutat
; 40(10): 1856-1873, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131953