Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

PURPOSE: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability. METHODS: Sequencing of ABCA4 was performed in 8 STGD1 cases with on...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Genet Med
Κύριοι συγγραφείς: Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group US 2019
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752325/
https://ncbi.nlm.nih.gov/pubmed/30643219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0414-9
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