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 (Q24533516)
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(P304) 1373-1385
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(P577) Tuesday, May 1, 2001
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(P1476) "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" (language: en)
(P2093) G Millat
C Marçais
K Chikh
A H Fensom
K Harzer
D A Wenger
K Ohno
M T Vanier
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