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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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Associação Brasileira de Divulgação Científica
2002-08-01
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| Collection: | Brazilian Journal of Medical and Biological Research |
| Sujets: | |
| Accès en ligne: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800009 |
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