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Results: 1-8 |
Results: 8
A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5 ' splice donor site with variant GC consensus and elongation of the upstream exon
Authors: Sakamoto, O Ohura, T Katsushima, Y Fujiwara, I Ogawa, E Miyabayashi, S Iinuma, K
Citation: O. Sakamoto et al., A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5 ' splice donor site with variant GC consensus and elongation of the upstream exon, HUM GENET, 109(5), 2001, pp. 559-563
Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA(Leu(UUR)) gene mutation
Authors: Hotta, O Inoue, CN Miyabayashi, S Furuta, T Takeuchi, A Taguma, Y
Citation: O. Hotta et al., Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA(Leu(UUR)) gene mutation, KIDNEY INT, 59(4), 2001, pp. 1236-1243
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
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
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
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
Complete repopulation of mouse mitochondrial DNA-less cells with rat mitochondrial DNA restores mitochondrial translation but not mitochondrial respiratory function
Authors: Yamaoka, M Isobe, K Shitara, H Yonekawa, H Miyabayashi, S Hayashi, J
Citation: M. Yamaoka et al., Complete repopulation of mouse mitochondrial DNA-less cells with rat mitochondrial DNA restores mitochondrial translation but not mitochondrial respiratory function, GENETICS, 155(1), 2000, pp. 301-307
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut(0) patients
Authors: Mikami, H Ogasawara, M Matsubara, Y Kikuchi, M Miyabayashi, S Kure, S Narisawa, K
Citation: H. Mikami et al., Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut(0) patients, J HUM GENET, 44(1), 1999, pp. 35-39
Adult Leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure
Authors: Kumagai, R Ichikawa, K Yasui, T Kageyama, Y Miyabayashi, S
Citation: R. Kumagai et al., Adult Leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure, EUR J NEUR, 6(5), 1999, pp. 613-615
Apple chlorotic leaf spot virus 50 kDa protein is targeted to plasmodesmata and accumulates in sieve elements in transgenic plant leaves
Authors: Yoshikawa, N Oogake, S Terada, M Miyabayashi, S Ikeda, Y Takahashi, T Ogawa, K
Citation: N. Yoshikawa et al., Apple chlorotic leaf spot virus 50 kDa protein is targeted to plasmodesmata and accumulates in sieve elements in transgenic plant leaves, ARCH VIROL, 144(12), 1999, pp. 2475-2483
Risultati: 1-8 |