Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Takehiko Sakuma"'
Autor:
Osamu Tamura, Takehiko Sakuma, Takakazu Honda, Yasushi Isashiki, Muneyasu Takeda, Atsushi Kanai, Kazuyuki Yoshida, Yoshihito Honda, Mizuo Matsui, Wakabayashi K, Nobue Kubota, Kawano S, Miyo Matsumura, Kiyoshi Akeo, Keiko Fujiki, Masayuki Horiguchi, Emiko Adachi, Tomotsugu Yura, Masanobu Uyama, Tsuyoshi Kimura, Yozo Miyake, Hisayuki Ueno, Takashi Tokoro, Mutsuko Hayakawa, Kan Koizumi, Norio Ohba, Nobuto Ishizaka, Kanji Choshi, H Sakaue, Takashi Nakagawa, Michio Watanabe, Nobuko Tagami, Naomi Shimowake, Mitsuko Yuzawa, Yoshihisa Oguchi, Tatsuro Ishibashi, Makoto Tamai
Publikováno v:
Japanese Journal of Ophthalmology. 41:1-6
A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1b4d294a778e7ce4337bf0a9cfec8b
https://doi.org/10.1016/s0021-5155(96)00018-4
https://doi.org/10.1016/s0021-5155(96)00018-4
Autor:
Keiko Fujiki, Muneyasu Takeda, Takashi Nakagawa, Michio Watanabe, Takashi Tokoro, H Sakaue, Kazuyuki Yoshida, Masayuki Horiguchi, Tsuyoshi Kimura, Mutsuko Hayakawa, Nobuto Ishizaka, Takakazu Honda, Miyo Matsumura, Kanji Choshi, Wakabayashi K, Nobue Kubota, Mizuo Matsui, Kiyoshi Akeo, Yozo Miyake, Kan Koizumi, Tatsuro Ishibashi, Mitsuko Yuzawa, Yoshihisa Oguchi, Emiko Adachi, Yoshihito Honda, Osamu Tamura, Makoto Tamai, Norio Ohba, Takehiko Sakuma, Masanobu Uyama, Yasushi Isashiki, Atsushi Kanai, Nobuko Tagami, Naomi Shimowake, Kawano S, Tomotsugu Yura, Hisayuki Ueno
Publikováno v:
Japanese journal of ophthalmology. 41(1)
Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32d16f62d78d2b69fb642e2dd2837a74
https://pubmed.ncbi.nlm.nih.gov/9147181
https://pubmed.ncbi.nlm.nih.gov/9147181
Autor:
Hitoshi Sakuma, Yoshihiro Hotta, Ryuji Kawaguchi, Michiru Noro, Kazumasa Hikiji, Makoto Tamai, Takashi Shiono, Mutsuko Hayakawa, Takehiko Sakuma, Keiko Fujiki, Atsushi Kanai, Akihiko Hoshi, Akira Nakajima
Publikováno v:
The Japanese journal of human genetics. 37(2)
The mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG--ATG) and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e225aed4c024081889d08e8706c7ccb
https://pubmed.ncbi.nlm.nih.gov/1391967
https://pubmed.ncbi.nlm.nih.gov/1391967
Publikováno v:
Experimental Eye Research. 55:116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0a008873f917f730413b896846651a3
https://doi.org/10.1016/0014-4835(92)90628-6
https://doi.org/10.1016/0014-4835(92)90628-6
Autor:
Keiko Fujiki, Makoto Tamai, M. Noro, Atsushi Kanai, Akira Nakajima, Takashi Shiono, Mutsuko Hayakawa, H. Sakuma, Yoshihiro Hotta, Takehiko Sakuma
Publikováno v:
Experimental Eye Research. 55:252
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::094934c4c6e88247655d5331ad2630da
https://doi.org/10.1016/0014-4835(92)91111-a
https://doi.org/10.1016/0014-4835(92)91111-a