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β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/−28 A → C
A Spanish male patient with β-thalassaemia major was studied. Compound heterozygosity was found for one of the most common β-globin gene mutations in the Spanish population (codon 39 C → T) and for a mutation in the TATA box element of the β-globin gene promoter (−28 A → C mutation). To our knowledg...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778560/ https://www.ncbi.nlm.nih.gov/pubmed/19960060 http://dx.doi.org/10.1155/2009/476342 |