Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa

PURPOSE: To elucidate the variant spectrum of the EYS gene in a large cohort of Japanese patients with autosomal recessive and simplex retinitis pigmentosa (arRP and sRP). METHODS: We performed a direct sequencing analysis of 44 exons of the EYS gene in 469 patients with RP (including 144 arRP, 288...

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Autores principales: Iwanami, Masaki, Oishi, Akio, Ogino, Ken, Seko, Yuko, Nishida-Shimizu, Tomomi, Yoshimura, Nagahisa, Kato, Seishi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857781/
https://www.ncbi.nlm.nih.gov/pubmed/31814702

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