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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Detalles Bibliográficos
Autores principales: 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, Futerman, Anthony H., Vilarinho, Laura, Alves, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667330/
https://www.ncbi.nlm.nih.gov/pubmed/32931663
http://dx.doi.org/10.1002/mgg3.1451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667330/
https://www.ncbi.nlm.nih.gov/pubmed/32931663
http://dx.doi.org/10.1002/mgg3.1451

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