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	Provedor de dados BJMBR (1) Autor Bassères,D.S. (1) Costa,F.F. (1) Saad,S.T.O. (1) Tavares,A.C. (1) Palavra-chave Acanthocytes (1) Mutation (1) Red cell membrane (1) SS-Spectrin (1) Spherocytosis (1) Tipo do documento Info:eu-repo/semantics/other (1) Ano 2002 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA BJMBR Bassères,D.S.; Tavares,A.C.; Costa,F.F.; Saad,S.T.O.. Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. ß-Spectrin-related HS seems to be common. We report here a new mutation in the ß-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (ß-spectrin São PauloII), exon 20. The mRNA encoding ß-spectrin São PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the... Tipo: Info:eu-repo/semantics/other Palavras-chave: SS-Spectrin; Red cell membrane; Spherocytosis; Acanthocytes; Mutation. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800009 Registros recuperados: 1 Primeira ... 1 ... Última

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