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1 Ergebnisse
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Deep-intronic ABCA4 variants explain missing heritability i..:
Sangermano, Riccardo
;
Garanto, Alejandro
;
Khan, Mubeen
...
Genetics in Medicine. 21 (2019) 8 - p. 1751-1760 , 2019
Link:
https://doi.org/10.1038/s41436-018-0414-9
RT Journal T1
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-018-0414-9&Exemplar=1&LAN=DE A1 Sangermano, Riccardo A1 Garanto, Alejandro A1 Khan, Mubeen A1 Runhart, Esmee H. A1 Bauwens, Miriam A1 Bax, Nathalie M. A1 van den Born, L. Ingeborgh A1 Khan, Muhammad Imran A1 Cornelis, Stéphanie S. A1 Verheij, Joke B.G.M. A1 Pott, Jan-Willem R. A1 Thiadens, Alberta A.H.J. A1 Klaver, Caroline C.W. A1 Puech, Bernard A1 Meunier, Isabelle A1 Naessens, Sarah A1 Arno, Gavin A1 Fakin, Ana A1 Carss, Keren J. A1 Raymond, F. Lucy A1 Webster, Andrew R. A1 Dhaenens, Claire-Marie A1 Stöhr, Heidi A1 Grassmann, Felix A1 Weber, Bernhard H.F. A1 Hoyng, Carel B. A1 De Baere, Elfride A1 Albert, Silvia A1 Collin, Rob W.J. A1 Cremers, Frans P.M. PB Elsevier BV YR 2019 SN 1098-3600 JF Genetics in Medicine VO 21 IS 8 SP 1751 OP 1760 LK http://dx.doi.org/https://doi.org/10.1038/s41436-018-0414-9 DO https://doi.org/10.1038/s41436-018-0414-9 SF ELIB - SuUB Bremen
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