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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228.
Science. 1997.
PMID: 9211849
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.
Millat G, Marçais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT.
Millat G, et al.
Am J Hum Genet. 2001 Jun;68(6):1373-85. doi: 10.1086/320606. Epub 2001 May 1.
Am J Hum Genet. 2001.
PMID: 11333381
Free PMC article.
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Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT.
Millat G, et al.
Am J Hum Genet. 1999 Nov;65(5):1321-9. doi: 10.1086/302626.
Am J Hum Genet. 1999.
PMID: 10521297
Free PMC article.
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