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The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (HBB: c.315+5 G>C) Variation with Other β-Thalassemia Mutations in Southern China
BACKGROUND: IVS-II-5 G>C (HBB: c.315+5 G>C) is a rare β-thalassemia mutation. However, there is no clear evidence regarding the effect of this defect or co-inheritance of other β-thalassemia mutations on phenotypes. METHODS: The clinical phenotypes associated with compound heterozygosity for t...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Università Cattolica del Sacro Cuore
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9083947/ https://www.ncbi.nlm.nih.gov/pubmed/35615327 http://dx.doi.org/10.4084/MJHID.2022.034 |