Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts

Niemann–Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Othe...

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Detalles Bibliográficos
Autores principales: Encarnação, Marisa, Ribeiro, Isaura, David, Hugo, Coutinho, Maria Francisca, Quelhas, Dulce, Alves, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671040/
https://www.ncbi.nlm.nih.gov/pubmed/38002933
http://dx.doi.org/10.3390/genes14111990

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671040/
https://www.ncbi.nlm.nih.gov/pubmed/38002933
http://dx.doi.org/10.3390/genes14111990

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