Article
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Molecular genetics and metabolism - 1 Apr 2004
Kojima Kanako, Kure Shigeo, Kamada Fumiaki, Hao Kiyotaka, Ichinohe Akiko, Sato Kenichi, Aoki Yoko, Yoichi Suzuki, Kubota Mitsuru, Horikawa Reiko, Utsumi Akiko, Miura Masayoshi, Ogawa Shinji, Kanazawa Masaki, Kohno Yoichi, Inokuchi Mikako, Hasegawa Tomonobu, Narisawa Kuniaki, Matsubara Yoichi
Abstract excerpt
We devised a simple method using a TaqMan fluorogenic probe for detection of a prevalent G6PT1 mutation W118R among Japanese patients with glycogen storage disease type Ib. The W118R mutation was detected in three of six newly diagnosed Japanese patients. The W118R-negative alleles were screened for causative mutations by sequencing analysis, revealing five novel mutations. The genetic tests using the simple...
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