Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups—NPC1, comprising ⩾95% of the families, and NPC2—has been demonstrated. Mutations in the NPC1 gene have now been well characterized. HE1 was recently identified as the gene underlying the very rare NPC2. Her...

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Hauptverfasser: Millat, Gilles, Chikh, Karim, Naureckiene, Saule, Sleat, David E., Fensom, Anthony H., Higaki, Katsumi, Elleder, Milan, Lobel, Peter, Vanier, Marie T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2001
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274348/
https://ncbi.nlm.nih.gov/pubmed/11567215
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