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	Provedor de dados BJMBR (1) Autor Araújo,A.S. (1) Bezerra,M.A.C. (1) Costa,F.F. (1) Kimura,E.M. (1) Oliveira,D.M. (1) Sonati,M.F. (1) Suemasu,C.N. (1) Mais... Palavra-chave Alpha-thalassemia (1) Brazilian population (1) Genetic polymorphisms (1) Hb H disease (1) Multiplex ligation-dependent probe amplification (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2011 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population BJMBR Suemasu,C.N.; Kimura,E.M.; Oliveira,D.M.; Bezerra,M.A.C.; Araújo,A.S.; Costa,F.F.; Sonati,M.F.. Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for their identification. The multiplex ligation-dependent probe amplification (MLPA) technique has recently been used for this purpose and was successfully used in the present study to detect the molecular alterations responsible for the alpha-thalassemic phenotypes in 8 unrelated individuals (3 males and 5 females; age, 4 months to 30 years) in whom the molecular basis of the disease could not be determined... Tipo: Info:eu-repo/semantics/article Palavras-chave: Alpha-thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; Genetic polymorphisms; Brazilian population. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000100003 Registros recuperados: 1 Primeira ... 1 ... Última

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