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Phenotypic Expression Of Eys Mutations In Patients With Autosomal Recessive Retinitis Pigmentosa In Northern Sweden

Marie Burstedt,Frida Jonsson,Ida Maria Westin,Irina Golovleva

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2018）

Cited 23|Views12
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Abstract
Purpose : To describe clinical phenotype in patients of northern Sweden affected by recessive retinitis pigmentosa (ARRP) caused by mutations in Eyes Shut Homolog (Drosophila) (EYS) gene.Methods : ...
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autosomal recessive retinitis pigmentosa,eys mutations,phenotypic expression
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