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Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report
BACKGROUND: Due to indels in the β-globin gene, patients with β-thalassemia major exhibit a range of severity, with genotype β(0)β(0) > β(0)β(+) > β(+)β(+), according to the production level of the β-globin chain. More than 300 mutations have been identified in the β-globin gene. CASE PRESENTA...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548154/ https://www.ncbi.nlm.nih.gov/pubmed/36209112 http://dx.doi.org/10.1186/s13256-022-03605-2 |