Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

BACKGROUND: Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycolipid and cholesterol trafficking, which could consequently lead to NPC disea...

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Detalles Bibliográficos
Autores principales: Abtahi, Rezvan, Karimzadeh, Parvaneh, Aryani, Omid, Akbarzadeh, Diba, Salehpour, Shadab, Rezayi, Alireza, Tonekaboni, Seyed Hassan, Emameh, Reza Zolfaghari, Houshmand, Massoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793247/
https://www.ncbi.nlm.nih.gov/pubmed/35086560
http://dx.doi.org/10.1186/s41065-022-00224-1

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