Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) represents a large group of inherited retinal diseases characterized by clinical and genetic heterogeneity. Among patients with RP in northern Sweden, we identified two severely affected siblings and aimed to reveal a genetic cause underlying their disease. METHODS...

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Publicado no:Mol Vis
Main Authors: Jonsson, Frida, Burstedt, Marie, Kellgren, Therese G., Golovleva, Irina
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197864/
https://ncbi.nlm.nih.gov/pubmed/30416333
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