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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Bujakowska, Kinga M., White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4641726/
https://ncbi.nlm.nih.gov/pubmed/26558903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0142614
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