Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

BACKGROUND: Next generation sequencing (NGS) offers a rapid and comprehensive method of screening for mutations associated with retinitis pigmentosa and related disorders. However, certain sequence alterations such as large insertions or deletions may remain undetected using standard NGS pipelines....

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Detalles Bibliográficos
Autores principales: Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641726/
https://www.ncbi.nlm.nih.gov/pubmed/26558903
http://dx.doi.org/10.1371/journal.pone.0142614

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