Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

由 Hong Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, Joerg Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong Hon Kang, Masashi Mizuguchi, Bruce A. Barshop, Shohei Fuchinoue, Sara Seneca, Susan Zeesman, Ina Knerr, Margarita Rodés, Pornswan Wasant, Ichiro Yoshida, Linda De Meirleir, Abdul Md Jalil, Laila Begum, Masahisa Horiuchi, Nobuhiko Katunuma, Shiro Nakagawa, Takeyori Saheki
出版 2018