Sachiko Kikuchi Shuhei Kameya Kiyoko Gocho Said El Shamieh Keiichiro Akeo Yuko Sugawara Kunihiko Yamaki Christina Zeitz Isabelle Audo Hiroshi Takahashi
10.1155/2015/545243
Biomed Res Int
2015;2015:545243.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25692141/
Eye Proteins / genetics Genes, Recessive Mutation, Missense Retinal Degeneration / genetics
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
PMC4322316
25692141
Cone dystrophy in patient with homozygous RP1L1 mutation
2015