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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T. Gao HZ, et al. Among authors: tokatli a. Hum Mutat. 2003 Jul;22(1):24-34. doi: 10.1002/humu.10230. Hum Mutat. 2003. PMID: 12815590
Mutational analysis of Turkish galactosaemia patients.
Coskun T, Erkul E, Seyrantepe V, Ozgüç M, Tokatli A, Ozalp I. Coskun T, et al. Among authors: tokatli a. J Inherit Metab Dis. 1995;18(3):368-9. doi: 10.1007/BF00710438. J Inherit Metab Dis. 1995. PMID: 7474913 Clinical Trial. No abstract available.
160 results