Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease. This study was co...

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Detalles Bibliográficos
Autores principales: Hosono, Katsuhiro, Ishigami, Chie, Takahashi, Masayo, Park, Dong Ho, Hirami, Yasuhiko, Nakanishi, Hiroshi, Ueno, Shinji, Yokoi, Tadashi, Hikoya, Akiko, Fujita, Taichi, Zhao, Yang, Nishina, Sachiko, Shin, Jae Pil, Kim, In Taek, Yamamoto, Shuichi, Azuma, Noriyuki, Terasaki, Hiroko, Sato, Miho, Kondo, Mineo, Minoshima, Shinsei, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281914/
https://www.ncbi.nlm.nih.gov/pubmed/22363543
http://dx.doi.org/10.1371/journal.pone.0031036

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