article_metadata: Sachiko Kikuchi Shuhei Kameya Kiyoko Gocho Said El Shamieh Keiichiro Akeo Yuko Sugawara Kunihiko Yamaki Christina Zeitz Isabelle Audo Hiroshi Takahashi
article_metadata: 10.1155/2015/545243
article_metadata: Biomed Res Int
article_metadata: 2015;2015:545243.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25692141/
article_metadata: Eye Proteins / genetics Genes, Recessive Mutation, Missense Retinal Degeneration / genetics
article_metadata: Eye Proteins / genetics Genes, Recessive Mutation, Missense Retinal Degeneration / genetics Case Reports Clinical Trial Research Support, Non-U.S. Gov't Amino Acid Substitution Female Homozygote Humans Male Middle Aged Retinal Cone Photoreceptor Cells / pathology Retinal Degeneration / pathology Tomography, Optical Coherence Eye Proteins RP1L1 protein, human
article_metadata: PMC4322316
article_metadata: 25692141
article_metadata: Cone dystrophy in patient with homozygous RP1L1 mutation
article_metadata: 2015