Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y.
Kojima K, et al. Among authors: hasegawa t.
Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004.
Mol Genet Metab. 2004.
PMID: 15059622