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A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. Procaccio V, et al. Among authors: styers ml. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21. Am J Hum Genet. 2006. PMID: 16685646 Free PMC article.
BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.
Salazar G, Craige B, Styers ML, Newell-Litwa KA, Doucette MM, Wainer BH, Falcon-Perez JM, Dell'Angelica EC, Peden AA, Werner E, Faundez V. Salazar G, et al. Among authors: styers ml. Mol Biol Cell. 2006 Sep;17(9):4014-26. doi: 10.1091/mbc.e06-02-0103. Epub 2006 Jun 7. Mol Biol Cell. 2006. PMID: 16760431 Free PMC article.
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