New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium; De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF.
Poulter JA, et al.
Hum Mutat. 2021 Feb;42(2):164-176. doi: 10.1002/humu.24140. Epub 2020 Nov 30.
Hum Mutat. 2021.
PMID: 33252155
Free PMC article.
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in-depth bioinformatic analyses to evalua …
Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night …