Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan

Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan

<i>Peripherin-2</i> (<i>PRPH2</i>) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with <i>...

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Detalles Bibliográficos
Autores principales: Akio Oishi, Kaoru Fujinami, Go Mawatari, Nobuhisa Naoi, Yasuhiro Ikeda, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Hiroyuki Kondo, Atsushi Mizota, Kei Shinoda, Sentaro Kusuhara, Makoto Nakamura, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
retinitis pigmentosa
cone-rod dystrophy
macular dystrophy
<i>peripherin 2</i> (<i>PRPH2</i>)
<i>retinal degeneration slow</i> (<i>RDS</i>)
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/0eb153e869f0451885260329ab65019c
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