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In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing

Identification of sequence variants that create or eliminate splice sites has proven to be a significant challenge and represents one of many roadblocks in the clinical interpretation of rare genetic variation. Current methods of identifying splice altering sequence variants exist, however, these ar...

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Detalles Bibliográficos
Publicado en:Curr Protoc Hum Genet
Main Authors: Patel, Parth N, Gorham, Joshua M, Ito, Kaoru, Seidman, Christine E.
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054316/
https://ncbi.nlm.nih.gov/pubmed/30038698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cphg.60
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