Kazutoshi Takahashi

Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

Jun Akanuma, Toshinori Nishigaki, Kunihiro Fujii et al. · American Journal of Medical Genetics · 2000 · 47 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

Yoko Aoki, Yoichi Suzuki, Osamu Sakamoto et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1995 · 34 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy

Shuichi KURE, Yoshiyuki Sakata, Shigeaki Miyabayashi et al. · Journal of Human Genetics · 1998 · 28 citations

Life Sciences, Genetics, Molecular Genetics +14