Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Sequence analysis of the coding regions and splice site sequences in inherited retinal diseases is not able to uncover ∼40% of the causal variants. Whole-genome sequencing can identify most of the non-coding variants, but their interpretation is still very challenging, in particular when the relevan...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Albert, Silvia, Garanto, Alejandro, Sangermano, Riccardo, Khan, Mubeen, Bax, Nathalie M., Hoyng, Carel B., Zernant, Jana, Lee, Winston, Allikmets, Rando, Collin, Rob W.J., Cremers, Frans P.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985352/
https://ncbi.nlm.nih.gov/pubmed/29526278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.02.008
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