NPC1 silent variant induces skipping of exon...

Molecular Genetics & Genomic Medicine 2020 / 09

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

Encarnação, Marisa, Coutinho, Maria Francisca, Cho, Soo Min, Cardoso, Maria Teresa, Ribeiro, Isaura, Chaves, Paulo, Santos, Juliana Inês, Quelhas, Dulce, Lacerda, Lúcia, Leão Teles, Elisa, Futerm
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Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1451
Date:
September, 2020
File:
PDF, 1.61 MB
2020
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