Detalhe da pesquisa
1.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Blood
; 141(4): 406-421, 2023 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36395340
2.
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Int J Mol Sci
; 24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982178
3.
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
J Thromb Haemost
; 20(5): 1248-1255, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170221