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Year | Number of Results |
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2000 | 1 |
2005 | 1 |
2024 | 0 |
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Identification of HE1 as the second gene of Niemann-Pick C disease.
Science. 2000 Dec 22;290(5500):2298-301. doi: 10.1126/science.290.5500.2298.
Science. 2000.
PMID: 11125141
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G.
Chikh K, et al.
Hum Mutat. 2005 Jul;26(1):20-8. doi: 10.1002/humu.20173.
Hum Mutat. 2005.
PMID: 15937921
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