Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
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Y. Kohno | Y. Matsubara | K. Narisawa | Y. Aoki | K. Kojima | M. Kubota | S. Kure | T. Hasegawa | R. Horikawa | A. Ichinohe | K. Hao | F. Kamada | M. Inokuchi | M. Miura | Shinji Ogawa | M. Kanazawa | Kenichi Sato | A. Utsumi | Suzuki Yoichi | Fumiaki Kamada