Á lódáil...
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3′-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers,...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Elsevier
2020-03-01
|
| Sraith: | Genes and Diseases |
| Rochtain Ar Líne: | http://www.sciencedirect.com/science/article/pii/S2352304220300131 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|