Yamamoto T.,2000


Yamamoto T., Ninomiya H., Matsumoto M., Ohta Y., Nanta E., Tsutsumi Y., Yamakawa K., Millat G., Vanier M.T., Pentchev P.G. Genotype/phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated fibroblasts. - J.Med.Genet., 2000, v. 37, p. 707-711.

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