https://www.selleckchem.com/pr....oducts/omaveloxolone
Niemann-Pick disease type C (NP-C) (OMIM#25722 is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age of onset. We studied the impact of the frequent polymorphic variant c.2793 C T (p.Asn931 = ), located in the donor splice site (SS) of NPC1 exon 18 on the penetrance of the rare synonymous variant c.2727 C T (p.Cys909 = ), identified in two 55 y.o. twins with an adult onset form of NP-C. The pat
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