Open AccessBlue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
Author(s) -
Alexander Sumaroka,
Alexandra V. Garafalo,
Artur V. Cideciyan,
Jason Charng,
Alejandro J. Román,
Windy Choi,
Supna Saxena,
Valeryia Aksianiuk,
Susanne Kohl,
Bernd Wissinger,
Samuel G. Jacobson
Publication year - 2018
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-25280
Subject(s) - missense mutation , foveal , ophthalmology , mutation , visual acuity , genetics , medicine , biology , gene , retinal
To compare the phenotype of blue cone monochromacy (BCM) caused by large deletion mutations with those having the C203R missense mutation.
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