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

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 Sequenci...

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Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: Coutinho, Maria Francisca (author), Cho, Soo Min (author), Cardoso, Maria Teresa (author), Ribeiro, Isaura (author), Chaves, Paulo (author), Santos, Juliana Inês (author), Quelhas, D (author), Lacerda, Lucia (author), Leão Teles, Elisa (author), Futerman, Anthony H. (author), Vilarinho, Laura (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2022
Subjects:
NPC1
Niemann-Pick type C
RNA-seq
exon skipping
silent variant
unfolded protein response
Online Access:http://hdl.handle.net/10400.16/2678
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2678

Internet

http://hdl.handle.net/10400.16/2678

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