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pro vyhledávání: '"C. J. Heppelmann"'
Autor:
Y. Wang, H. R. Bergen, Margherita Milone, C. J. Heppelmann, Thomas L. Winder, Elliot L. Dimberg, Teerin Liewluck, Brian A. Crum
Publikováno v:
European journal of neurology. 20(10)
Background and purpose Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are