Article
Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
BMC medical genomics - 17 Sept 2021
Dweikat Imad, Thaher Othman, Abosleem Abdulrahman, Zeer Almotazbellah, Mokh Ameer Abo
Abstract excerpt
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 lipids in lysosomes. METHODS: We described sixteen patients with NPC diagnosed between the age of 1 month and 30 years at two...
Topics
Join the communities discussing this publication.