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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Vis
Autores principales: Jonsson, Frida, Burstedt, Marie, Kellgren, Therese G., Golovleva, Irina
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197864/
https://ncbi.nlm.nih.gov/pubmed/30416333
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares