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Autor:
Robyn T. Rebbeck, Adam W. Avery, David D. Thomas, Anna K. Andrick, Bengt Svensson, Piyali Guhathakurta, Sarah A. Denha, Thomas S. Hays
Publikováno v:
The Journal of Biological Chemistry
Numerous diseases are linked to mutations in the actin-binding domains (ABDs) of conserved cytoskeletal proteins, including β-III-spectrin, α-actinin, filamin, and dystrophin. A β-III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia