Concepedia

The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1

W.L. Greer, D. Christie Riddell, T.L. Gillan, G.S. Girouard, Susan M. Sparrow, David M. Byers, Melanie J. Dobson, Paul E. Neumann

The American Journal of Human Genetics · 1998 · 125 citations · 14 references

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References

14

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

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Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

Stacie K. Loftus, Jill A. Morris, Eugene D. Carstea et al. · Science · 1997 · 807 citations

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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.

Peter G. Pentchev, Marcella Comly, Howard S. Kruth et al. · Proceedings of the National Academy of Sciences · 1985 · 397 citations · Full text

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