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1 Ergebnisse
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Autosomal-dominant adult neuronal ceroid lipofuscinosis cau..:
The Adult NCL Gene Discovery Consortium
;
Jedličková, Ivana
;
Cadieux-Dion, Maxime
...
European Journal of Human Genetics. 28 (2020) 6 - p. 783-789 , 2020
Link:
https://doi.org/10.1038/s41431-019-0567-2
RT Journal T1
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-019-0567-2&Exemplar=1&LAN=DE A1 The Adult NCL Gene Discovery Consortium A1 Jedličková, Ivana A1 Cadieux-Dion, Maxime A1 Přistoupilová, Anna A1 Stránecký, Viktor A1 Hartmannová, Hana A1 Hodaňová, Kateřina A1 Barešová, Veronika A1 Hůlková, Helena A1 Sikora, Jakub A1 Nosková, Lenka A1 Mušálková, Dita A1 Vyleťal, Petr A1 Sovová, Jana A1 Cossette, Patrick A1 Andermann, Eva A1 Andermann, Frederick A1 Kmoch, Stanislav PB Springer Science and Business Media LLC YR 2020 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 28 IS 6 SP 783 OP 789 LK http://dx.doi.org/https://doi.org/10.1038/s41431-019-0567-2 DO https://doi.org/10.1038/s41431-019-0567-2 SF ELIB - SuUB Bremen
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