Publication
| Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K,
Millat G, Vanier MT, Pentchev PG, Ohno K, Genotype-phenotype relationship of Niemann-Pick disease type C: a possible
correlation between clinical onset and levels of NPC1 protein in isolated skin
fibroblasts. J Med Genet37(9):707-12 2000 |
| PubMed ID: 11182931 |
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| Records Return:
(2)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03123 | Female | 9 YR | 451 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM00110 | Male | 9 YR | | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
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