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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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2021-09-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |