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

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 l...

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Detalles Bibliográficos
Autores principales: Dweikat, Imad, Thaher, Othman, Abosleem, Abdulrahman, Zeer, Almotazbellah, Mokh, Ameer Abo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8449430/
https://www.ncbi.nlm.nih.gov/pubmed/34535129
http://dx.doi.org/10.1186/s12920-021-01072-0

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