Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia
The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of the β-globin gene is described in the literature as both mild and silent, while it causes a phenotype of thalassemia intermedia in the presence of a severe β-thalassemia allele. Despite its potential clinical sign...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
MDPI AG
2024-01-01
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| Saila: | Biomedicines |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.mdpi.com/2227-9059/12/2/296 |
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