@misc{oai:ir.kagoshima-u.ac.jp:00002902, author = {田畑, 文子}, month = {2016-10-27}, note = {学位論文の要旨}, title = {Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency}, year = {} }