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

• Κύριοι συγγραφείς: Imad Dweikat (Συγγραφέας), Othman Thaher (Συγγραφέας), Abdulrahman Abosleem (Συγγραφέας), Almotazbellah Zeer (Συγγραφέας), Ameer Abo Mokh (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2021-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...