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Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site

The most common hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) mutations are α-spectrin missense mutations in the dimer-tetramer self-association site. In this study, we systematically compared structural and functional properties of the 14 known HE/HPP mutations located in t...

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Detalhes bibliográficos
Main Authors: Gaetani, Massimiliano, Mootien, Sara, Harper, Sandra, Gallagher, Patrick G., Speicher, David W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2424163/
https://ncbi.nlm.nih.gov/pubmed/18218854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-11-122457
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