Data/hora: 26/07/2024 22:49:46

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient	
Autores: 	Moosa,Mahdi Muhammad; Ayub,Mustak Ibn; Bashar,AMA Emran; Sarwardi,Golam; Khan,Waqar; Khan,Haseena; Yeasmin,Sabina.	
Data: 	2011-01-01	
Ano: 	2011	
Palavras-chave: 	Hb Monroe HBB: -92C&gt; G transcription factor Egr1.	
Resumo: 	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: -92C&gt;G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C&gt;G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572011005000026	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.34 n.3 2011	
Fonte: 	info:eu-repo/semantics/openAccess