ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, small genomic fragments carrying potential disease-associated variants are tested for splice ab...

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Gepubliceerd in:Genome Res
Hoofdauteurs: Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S., Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L. Ingeborgh, Collin, Rob W.J., Cremers, Frans P.M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Cold Spring Harbor Laboratory Press 2018
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5749174/
https://ncbi.nlm.nih.gov/pubmed/29162642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.226621.117
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