Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene

Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene

Abstract Background Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosomal trafficking, resulting in the accumulation of tissue-specific lip...

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Bibliographic Details
Main Authors: Imad Dweikat, Othman Thaher, Abdulrahman Abosleem, Almotazbellah Zeer, Ameer Abo Mokh
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Medical Genomics
Subjects:
NPC
Vertical supranuclear gaze palsy
Hepatosplenomegaly
Founder mutation
Online Access:https://doi.org/10.1186/s12920-021-01072-0

Internet

https://doi.org/10.1186/s12920-021-01072-0

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