Hb Foggia or α117(GH5)Phe → Ser : a new α2 globin allele affecting the αHb-AHSP interaction
We report a novel α2-globin gene allele with the mutation cod 117 TTC>TCC or α117(GH5)Phe>Ser detected in three carriers with α-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no chain or hemoglobin variant were detected. Most likely...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Ferrata Storti Foundation
2008-01-01
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| Saila: | Haematologica |
| Sarrera elektronikoa: | https://haematologica.org/article/view/4701 |
| Etiketak: |
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