Publication
Takamura A, Sakai N, Shinpoo M, Noguchi A, Takahashi T, Matsuda S, Yamamoto M, Narita A, Ohno K, Ohashi T, Ida H, Eto Y., The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear. Mol Genet Metab.(http://www.sciencedirect.com/science/article/pii/: 2013 |
PubMed ID: 24001525 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM22870 | Female | 4 YR | 2814 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
AG08498 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | AG |
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