Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

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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Bibliographic Details
Main Authors: Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Hiroshi Nakanishi, Shinji Ueno, Tadashi Yokoi, Akiko Hikoya, Taichi Fujita, Yang Zhao, Sachiko Nishina, Jae Pil Shin, In Taek Kim, Shuichi Yamamoto, Noriyuki Azuma, Hiroko Terasaki, Miho Sato, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3281914?pdf=render

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http://europepmc.org/articles/PMC3281914?pdf=render

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