Article
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Human mutation - 1 Jul 2003
Gao Hong-Zhi, Kobayashi Keiko, Tabata Ayako, Tsuge Hideaki, Iijima Mikio, Yasuda Tomotsugu, Kalkanoglu H Serap, Dursun Ali, Tokatli Aysegul, Coskun Turgay, Trefz Friedrich K, Skladal Daniela, Mandel Hanna, Seidel Joerg, Kodama Soichi, Shirane Seiko, Ichida Takafumi, Makino Shigeru, Yoshino Makoto, Kang Jong-Hon, Mizuguchi Masashi, Barshop Bruce A, Fuchinoue Shohei, Seneca Sara, Zeesman Susan, Knerr Ina, Rodés Margarita, Wasant Pornswan, Yoshida Ichiro, De Meirleir Linda, Abdul Jalil Md, Begum Laila, Horiuchi Masahisa, Katunuma Nobuhiko, Nakagawa Shiro, Saheki Takeyori
Abstract excerpt
Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japan and the United States, and to date 34 different mutations have been described in 50 families...
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