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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Autores principales: Johnson, Colin P., Gaetani, Massimiliano, Ortiz, Vanessa, Bhasin, Nishant, Harper, Sandy, Gallagher, Patrick G., Speicher, David W., Discher, Dennis E.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Hematology 2007
Materias:
Red Cells
Acceso en línea: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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