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...

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Detalles Bibliográficos
Autores principales: Moosa, Mahdi Muhammad, Ayub, Mustak Ibn, Bashar, AMA Emran, Sarwardi, Golam, Khan, Waqar, Khan, Haseena, Yeasmin, Sabina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2011
Materias:
Human and Medical Genetics
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

Internet

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

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