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Autor:
Megan Hwa Brewer, Ki Hwan Ma, Gary W. Beecham, Chetna Gopinath, Frank Baas, Byung-Ok Choi, Mary M. Reilly, Michael E. Shy, Stephan Züchner, John Svaren, Anthony Antonellis, Chani Hodonsky, Richard Quarles, Kurt Fischbeck, Jim Lupski, Ken Inoue, Michael Wegner, Pavel Seeman
Publikováno v:
Human molecular genetics, 23(19), 5171-5187. Oxford University Press
Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2) gene cause autosomal recessive demyelinating Charcot–Marie–Tooth neuropathy. The SH3TC2 protein has been implicated in promyelination signaling