Article
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
American journal of human genetics - 1 Nov 2001
Millat G, Chikh K, Naureckiene S, Sleat D E, Fensom A H, Higaki K, Elleder M, Lobel P, Vanier M T
Abstract excerpt
In Niemann-Pick disease type C (NPC), a genetic heterogeneity with two complementation groups--NPC1, comprising > or =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. Here we report the first comprehensive study of eight unrelated families with NPC2, originating from France,...
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