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Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

โœ Scribed by Emyr Lloyd-Evans; Frances M. Platt


Book ID
111268480
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
818 KB
Volume
11
Category
Article
ISSN
1398-9219

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Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o