Takenori Kabuto Hisatomo Takahashi Yoko Goto-Fukuura Tsutomu Igarashi Masakazu Akahori Shuhei Kameya Takeshi Iwata Atsushi Mizota Kunihiko Yamaki Yozo Miyake Hiroshi Takahashi
Mol Vis
2012;18:1031-9.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22605915/
Asian People / genetics Eye Proteins / genetics Macular Degeneration / genetics Mutation Retina / metabolism
Asian People / genetics Eye Proteins / genetics Macular Degeneration / genetics Mutation Retina / metabolism Case Reports Amino Acid Substitution Base Sequence Case-Control Studies Electroretinography Exons Female Humans Introns Macular Degeneration / metabolism Macular Degeneration / physiopathology Middle Aged Molecular Sequence Data Pedigree Retina / physiopathology Sequence Analysis, DNA Eye Proteins RP1L1 protein, human
PMC3351429
22605915
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms
2012