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

• मुख्य लेखकों: Imad Dweikat (लेखक), Othman Thaher (लेखक), Abdulrahman Abosleem (लेखक), Almotazbellah Zeer (लेखक), Ameer Abo Mokh (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2021-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...