@misc{oai:niigata-u.repo.nii.ac.jp:00005092, author = {霜鳥, 正明}, month = {Mar}, note = {新潟大学, 平成20年3月24日, 新大院博(医)第224号, 新大院博(医)甲第224号}, title = {Novel Mutations of the GLA Gene in Japanese Patients with Fabry Disease and Their Functional Characterization by Active Site Specific Chaperone}, year = {2008} }