Article
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Hereditas - 27 Jan 2022
Abtahi Rezvan, Karimzadeh Parvaneh, Aryani Omid, Akbarzadeh Diba, Salehpour Shadab, Rezayi Alireza, Tonekaboni Seyed Hassan, Emameh Reza Zolfaghari, Houshmand Massoud
Abstract excerpt
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 disease with variable phenotypes displaying a broad spectrum of symptoms. MATERIALS: In the present study 35 Iranian NPC...
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