Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Peripherin-2 (PRPH2) 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 PRPH2-associated retinal dystrophy. We identifi...

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Detalles Bibliográficos
Autores principales: Oishi, Akio, Fujinami, Kaoru, Mawatari, Go, Naoi, Nobuhisa, Ikeda, Yasuhiro, Ueno, Shinji, Kuniyoshi, Kazuki, Hayashi, Takaaki, Kondo, Hiroyuki, Mizota, Atsushi, Shinoda, Kei, Kusuhara, Sentaro, Nakamura, Makoto, Iwata, Takeshi, Tsujikawa, Akitaka, Tsunoda, Kazushige
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8624169/
https://www.ncbi.nlm.nih.gov/pubmed/34828423
http://dx.doi.org/10.3390/genes12111817

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