A synonymous variant is unmasked in thalassaemia.
Br J Haematol
; 204(2): 399-401, 2024 02.
Article
em En
| MEDLINE
| ID: mdl-37985143
ABSTRACT
The genetic underpinnings of beta-thalassaemia encompass a myriad of molecular mechanisms. The ability of synonymous mutations, an often-overlooked category of variants, to influence ß-globin expression and phenotypic disease is highlighted by this report by Gorivale et al. Commentary on Gorivale et al. When a synonymous mutation breaks the silence in a thalassaemia patient. Br J Haematol 2024;204677-682.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Talassemia beta
Limite:
Humans
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos