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Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β(0)) or partial (β(+)) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β(0)39, β(+)IVSI-110, β(+)IVSI-6 and β(0)IVSI-1. Sever...
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| Publicat a: | PLoS One |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5325530/ https://ncbi.nlm.nih.gov/pubmed/28235086 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0172756 |
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