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Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

Deep-sequencing of the ABCA4 locus has revealed that ~10% of autosomal recessive Stargardt disease (STGD1) cases are caused by deep-intronic mutations. One of the most recurrent deep-intronic variants in the Belgian and Dutch STGD1 population is the c.4539+2001G>A mutation. This variant introduce...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Garanto, Alejandro, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Collin, Rob W. J.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6628380/
https://ncbi.nlm.nih.gov/pubmed/31197102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10060452
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