Y. Mashima
Department of Ophthalmology
Keio University School of Medicine
Tokyo
Japan
Name/email consistency: high
- Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. Mashima, Y., Saga, M., Hiida, Y., Imamura, Y., Kudoh, J., Shimizu, N. Am. J. Ophthalmol. (2000)
- Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. Mashima, Y., Shinoda, K., Ishida, S., Ozawa, Y., Kudoh, J., Iwata, T., Oguchi, Y., Shimizu, N. Hum. Mutat. (1999)
- A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Mashima, Y., Nakamura, Y., Noda, K., Konishi, M., Yamada, M., Kudoh, J., Shimizu, N. Arch. Ophthalmol. (1999)
- Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N., Oguchi, Y. Curr. Eye Res. (1998)
