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.
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C. Tomasetto | G. Millat | D. Wenger | M. Vanier | K. Ohno | C. Marçais | K. Harzer | K. Chikh | A. Fensom
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