Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Genetic variants that cause haploinsufficiency account for many autosomal dominant (AD) disorders. Gene-based diagnosis classifies variants that alter canonical splice signals as pathogenic, but due to imperfect understanding of RNA splice signals other variants that may create or eliminate splice s...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Ito, Kaoru, Patel, Parth N., Gorham, Joshua M., McDonough, Barbara, DePalma, Steven R., Adler, Emily E., Lam, Lien, MacRae, Calum A., Mohiuddin, Syed M., Fatkin, Diane, Seidman, Christine E., Seidman, J. G.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2017
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5528995/
https://ncbi.nlm.nih.gov/pubmed/28679633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1707741114
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