A 4 base pair TGAT insertion at codon 116 of the beta globin gene causes beta0-thalassemia
A new beta(0) thalassemia allele caused by a TGAT insert in codon 116 of exon III was detected in a patient compound heterozygous for beta(0) thalassemia / Hb D Los Angeles and his father. The mutation unexpectedly causes a classical thalassemic phenotype. The compound heterozygosity leads to mild m...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Ferrata Storti Foundation
2005-01-01
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| Serier: | Haematologica |
| Online adgang: | https://haematologica.org/article/view/3727 |
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