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Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: −92 C > G. The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluste...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168178/ https://www.ncbi.nlm.nih.gov/pubmed/21931510 http://dx.doi.org/10.1590/S1415-47572011005000026 |