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EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of recessive RP worldwide, with prevalence of 5 to 30%. In this study, by using targeted...

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Detalles Bibliográficos
Autores principales:	Westin, Ida Maria, Jonsson, Frida, Österman, Lennart, Holmberg, Monica, Burstedt, Marie, Golovleva, Irina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032658/ https://www.ncbi.nlm.nih.gov/pubmed/33833316 http://dx.doi.org/10.1038/s41598-021-87224-9

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