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1 Ergebnisse
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NPC1 silent variant induces skipping of exon 11 (p.V562V) a..:
Encarnação, Marisa
;
Coutinho, Maria Francisca
;
Cho, Soo Min
...
Molecular Genetics & Genomic Medicine. 8 (2020) 11 - p. , 2020
Link:
https://doi.org/10.1002/mgg3.1451
RT Journal T1
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mgg3.1451&Exemplar=1&LAN=DE A1 Encarnação, Marisa A1 Coutinho, Maria Francisca A1 Cho, Soo Min A1 Cardoso, Maria Teresa A1 Ribeiro, Isaura A1 Chaves, Paulo A1 Santos, Juliana Inês A1 Quelhas, Dulce A1 Lacerda, Lúcia A1 Leão Teles, Elisa A1 Futerman, Anthony H. A1 Vilarinho, Laura A1 Alves, Sandra PB Wiley YR 2020 SN 2324-9269 SN 2324-9269 JF Molecular Genetics & Genomic Medicine VO 8 IS 11 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1451 DO https://doi.org/10.1002/mgg3.1451 SF ELIB - SuUB Bremen
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