Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Reimi Mishima"'
Autor:
Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 13, Iss , Pp 110-115 (2019)
Purpose: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was use
Externí odkaz:
https://doaj.org/article/45bbd6012c0f4156a1a8a1408411f090
Autor:
Reimi Mishima, Kei Mizobuchi, Kaoru Fujinami, Takeshi Iwata, Satoshi Katagiri, Kazuki Kuniyoshi, Takaaki Hayashi, Tadashi Nakano, Kazutoshi Yoshitake, Kazushige Tsunoda
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 13, Iss, Pp 110-115 (2019)
Purpose: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was use
Autor:
Kei, Mizobuchi, Satoshi, Katagiri, Takaaki, Hayashi, Kazutoshi, Yoshitake, Kaoru, Fujinami, Kazuki, Kuniyoshi, Reimi, Mishima, Kazushige, Tsunoda, Takeshi, Iwata, Tadashi, Nakano
Publikováno v:
American Journal of Ophthalmology Case Reports
Purpose To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was used