Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R

Kanako Kojima, Shigeo Kure, Fumiaki Kamada, Kiyotaka Hao, Akiko Ichinohe, Kenichi Sato, Yoko Aoki, Suzuki Yoichi, Mitsuru Kubota, Reiko Horikawa, Akiko Utsumi, Masayoshi Miura, Shinji Ogawa, Masaki Kanazawa, Yoichi Kohno, Mikako Inokuchi, Tomonobu Hasegawa, Kuniaki Narisawa, Yoichi Matsubara

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Medicine & Life Sciences

Chemical Compounds