Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the pat...

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Bibliographic Details
Main Authors: Zama Messala Luna da Silveira, Maria das Vitórias Barbosa, Thales Allyrio Araújo de Medeiros Fernandes, Elza Miyuki Kimura, Fernando Ferreira Costa, Maria de Fátima Sonati, Ivanise Marina Moretti Rebecchi, Tereza Maria Dantas de Medeiros
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2011-01-01
Series:Genetics and Molecular Biology
Subjects:
hereditary hemoglobinopathies
beta-thalassemia
mutations
PCR-RFLP
Brazilian population
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010

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