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Compound heterozygous β(+) β(0) mutation of HBB gene leading to β-thalassemia major in a Gujarati family — A case study
β-Thalassemia is a genetic disease characterized by reduced or non-functionality of β-globin gene expression, which is caused due to a number of variations and indels (insertions and deletions). In this case study, we have reported a rare occurrence of compound heterozygosity of two different varian...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4834677/ https://www.ncbi.nlm.nih.gov/pubmed/27134826 http://dx.doi.org/10.1016/j.ymgmr.2016.04.002 |