Browsing School of Biological Sciences · Te Kura Mātauranga Koiora by Author "Carswell, Shaun"

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Exome sequence analysis of siblings affected with Niemann-Pick type C disease

Carswell, Shaun (Victoria University of WellingtonVictoria University of Wellington, 2020)

Mutations in either the Niemann-Pick type C1 or C2 (NPC1/NPC2) gene result in a fatal lysosomal storage disorder, Niemann-Pick type C (NP-C) disease, for which there is no effective cure. The disease is characterized by ...