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A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.
Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernàndez-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM. Serra SA, et al. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1672-7. doi: 10.1073/pnas.0908359107. Epub 2010 Jan 8. Proc Natl Acad Sci U S A. 2010. PMID: 20080591 Free PMC article.
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