ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA

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 co...

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Hlavní autoři:	D.S. Bassères, A.C. Tavares, F.F. Costa, S.T.O. Saad
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Associação Brasileira de Divulgação Científica 2002-08-01
Edice:	Brazilian Journal of Medical and Biological Research
Témata:	ß-Spectrin Red cell membrane Spherocytosis Acanthocytes Mutation
On-line přístup:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800009
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