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pro vyhledávání: '"Eva Vikerfors"'
Autor:
Amy S. Paller, Vivien C. Yee, Nathalie Burri, Marcel Huber, Adriana P.M. Lavrijsen, Eva Vikerfors, Daniel Hohl
Publikováno v:
Journal of Biological Chemistry. 272:21018-21026
We report the molecular characterization of seven new keratinocyte transglutaminase mutations (R315C, S358R, V379L, G473S, R687C, deletion Delta679-696, R127Stop) found in lamellar ichthyosis patients. Arg-315, Ser-358, Val-379, and Gly-473 are highl