Article
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
American journal of human genetics - 1 Jun 2001
Millat G, Marçais C, Tomasetto C, Chikh K, Fensom A H, Harzer K, Wenger D A, Ohno K, Vanier M T
Abstract excerpt
To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from 30 unrelated patients with Niemann-Pick C1 disease. Nine of them were characterized by mild alterations of cellular...
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