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

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

Abstract Background Niemann‐Pick type C (NPC, MIM #257220) is a neuro‐visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods We used a Next‐Generation S...

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Bibliographic Details
Main Authors: Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exon skipping
Niemann‐Pick type C
NPC1
RNA‐seq
silent variant
unfolded protein response
Online Access:https://doi.org/10.1002/mgg3.1451

Internet

https://doi.org/10.1002/mgg3.1451

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