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Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding
Pathogenic mutations in α and β spectrin result in a variety of syndromes, including hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS). Although some mutations clearly lie at sites of interaction, such as the sites of spectrin α-βtetramer formatio...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society of Hematology
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1852230/ https://ncbi.nlm.nih.gov/pubmed/17192394 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2006-07-038588 |
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