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Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding

Colin P. Johnson, Massimiliano Gaetani, Vanessa Ortiz, Nishant Bhasin, Sandy Harper, Patrick G. Gallagher, David W. Speicher, Dennis E. Discher
Journal: Blood
Blood (2006) 109 (8): 3538–3543.
https://doi.org/10.1182/blood-2006-07-038588
Published: 2006
Includes: Supplemental data