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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1999 | 1 |
2001 | 1 |
2013 | 1 |
2024 | 0 |
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Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
Am J Hum Genet. 1999 Nov;65(5):1252-60. doi: 10.1086/302620.
Am J Hum Genet. 1999.
PMID: 10521290
Free PMC article.
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Bauer P, Balding DJ, Klünemann HH, Linden DE, Ory DS, Pineda M, Priller J, Sedel F, Muller A, Chadha-Boreham H, Welford RW, Strasser DS, Patterson MC.
Bauer P, et al.
Hum Mol Genet. 2013 Nov 1;22(21):4349-56. doi: 10.1093/hmg/ddt284. Epub 2013 Jun 16.
Hum Mol Genet. 2013.
PMID: 23773996
Free PMC article.
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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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