New variants and in silico analyses in GRK1 associated Oguchi disease

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 evaluate how their impact on prot...

Descripción completa

Detalles Bibliográficos
Autores principales: Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Zeitz, Christina, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898643/
https://www.ncbi.nlm.nih.gov/pubmed/33252155
http://dx.doi.org/10.1002/humu.24140

Ejemplares similares

Ejemplares similares