Authors:
Akanuma, J
Muraki, K
Komaki, H
Nonaka, I
Goto, Y
Citation: J. Akanuma et al., Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene, J HUM GENET, 45(6), 2000, pp. 337-341
Authors:
Fujii, K
Matsubara, Y
Akanuma, J
Takahashi, K
Kure, S
Suzuki, Y
Imaizumi, M
Iinuma, K
Sakatsume, O
Rinaldo, P
Narisawa, K
Citation: K. Fujii et al., Mutation Detection by TaqMan-allele specific amplification: Application tomolecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency, HUM MUTAT, 15(2), 2000, pp. 189-196
Authors:
Yoshida, Y
Akanuma, J
Tochikubo, S
Hoshi, A
Matsuura, Y
Homma, M
Yamamoto, T
Citation: Y. Yoshida et al., Slowly progressive dystonia following central pontine and extrapontine myelinolysis, INTERN MED, 39(11), 2000, pp. 956-960
Authors:
Takahashi, K
Akanuma, J
Matsubara, Y
Fujii, K
Kure, S
Suzuki, Y
Wataya, K
Sakamoto, O
Aoki, Y
Ogasawara, M
Ohura, T
Miyabayashi, S
Narisawa, K
Citation: K. Takahashi et al., Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, AM J MED G, 92(2), 2000, pp. 90-94
Authors:
Akanuma, J
Nishigaki, T
Fujii, K
Matsubara, Y
Inui, K
Takahashi, K
Kure, S
Suzuki, Y
Ohura, T
Miyabayashi, S
Ogawa, E
Iinuma, K
Okada, S
Narisawa, K
Citation: J. Akanuma et al., 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, AM J MED G, 91(2), 2000, pp. 107-112
Authors:
Nagasaki, Y
Matsubara, Y
Takano, H
Fujii, K
Senoo, M
Akanuma, J
Takahashi, K
Kure, S
Hara, M
Kanegae, Y
Saito, I
Narisawa, K
Citation: Y. Nagasaki et al., Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer, PEDIAT RES, 45(4), 1999, pp. 465-473