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A novel missense mutation of the GRK1 gene in Oguchi disease

Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S-antigen (SAG) and G-protein-dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK...

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Detalles Bibliográficos
Autores principales: Teke, Mehmet Yasin, Citirik, Mehmet, Kabacam, Serkan, Demircan, Suleyman, Alikasifoglu, Mehmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042745/
https://www.ncbi.nlm.nih.gov/pubmed/27511724
http://dx.doi.org/10.3892/mmr.2016.5620