TY  - GEN
AU  - Hayashi,Takaaki
AU  - Hosono,Katsuhiro
AU  - Kurata,Kentaro
AU  - Katagiri,Satoshi
AU  - Mizobuchi,Kei
AU  - Ueno,Shinji
AU  - Kondo,Mineo
AU  - Nakano,Tadashi
AU  - Hotta,Yoshihiro
TI  - Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy
SN  - 1573-2622
PY  - 2020///0410
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Cone-Rod Dystrophies
KW  - Electroretinography
KW  - Eye Diseases, Hereditary
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Myopia
KW  - Night Blindness
KW  - Pedigree
KW  - Phenotype
KW  - Photic Stimulation
KW  - Polymorphism, Single Nucleotide
KW  - Retina
KW  - physiology
KW  - Retinal Cone Photoreceptor Cells
KW  - Tomography, Optical Coherence
KW  - Transducin
KW  - Visual Acuity
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10633-019-09727-1
ER  -