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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...

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Detalles Bibliográficos
Autores principales: Liao, Guiping, Zhou, Yali, Yin, Xiaolin, He, Sheng, Wu, Yi, Xiao, Jian, Geng, Zhili, Huang, Qiuying, Luo, Ganghui, Yang, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Università Cattolica del Sacro Cuore 2022
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