8 results for author:"Shimmoto M." in Literature citations
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| Molecular analysis of beta-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil. Fernandes A.C., Shimmoto M.M., Furuzawa G.K., Vicari P., Figueiredo M.S. Hemoglobin 35:358-366(2011) · Mapped (38) |
| Molecular and structural studies of Japanese patients with sialidosis type 1. Naganawa Y., Itoh K., Shimmoto M., Takiguchi K., Doi H., Nishizawa Y., Kobayashi T., Kamei S., Lukong K.E., Pshezhetsky A.V. et al. J. Hum. Genet. 45:241-249(2000) · UniProtKB (1) |
| Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. Takiguchi K., Itoh K., Shimmoto M., Ozand P.T., Doi H., Sakuraba H. J. Hum. Genet. 45:200-206(2000) · UniProtKB (1) |
| Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis. Takata T., Okumiya T., Hayashibe H., Shimmoto M., Kase R., Itoh K., Utsumi K., Kamei S., Sakuraba H. Brain Dev. 19:111-116(1997) · UniProtKB (1) |
| Protective protein gene mutations in galactosialidosis. Shimmoto M., Fukuhara Y., Itoh K., Oshima A., Sakuraba H., Suzuki Y. J. Clin. Invest. 91:2393-2398(1993) · UniProtKB (1) · Mapped (4) |
| Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Sakuraba H., Oshima A., Fukuhara Y., Shimmoto M., Nagao Y., Bishop D.F., Desnick R.J., Suzuki Y. Am. J. Hum. Genet. 47:784-789(1990) · UniProtKB (1) |
| Human beta-galactosidase gene mutations in morquio B disease. Oshima A., Yoshida K., Shimmoto M., Fukuhara Y., Sakuraba H., Suzuki Y. Am. J. Hum. Genet. 49:1091-1093(1991) · UniProtKB (1) |
| Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Yoshida K., Oshima A., Shimmoto M., Fukuhara Y., Sakuraba H., Yanagisawa N., Suzuki Y. Am. J. Hum. Genet. 49:435-442(1991) · UniProtKB (1) |