@article{c74842aaae1a4556aa6e6ae501db20bd,
title = "Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R",
abstract = "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 TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder.",
keywords = "Glucose-6-phosphatase, Glucose-6-phosphate transporter, Glycogen storage disease type Ib, Japanese patients, Mutation, Mutation detection, TaqMan-allele-specific amplification",
author = "Kanako Kojima and Shigeo Kure and Fumiaki Kamada and Kiyotaka Hao and Akiko Ichinohe and Kenichi Sato and Yoko Aoki and Suzuki Yoichi and Mitsuru Kubota and Reiko Horikawa and Akiko Utsumi and Masayoshi Miura and Shinji Ogawa and Masaki Kanazawa and Yoichi Kohno and Mikako Inokuchi and Tomonobu Hasegawa and Kuniaki Narisawa and Yoichi Matsubara",
year = "2004",
month = apr,
doi = "10.1016/j.ymgme.2003.12.004",
language = "English",
volume = "81",
pages = "343--346",
journal = "Biochemical Medicine and Metabolic Biology",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "4",
}