Publication
| Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO, A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A82:8247-51 1985 |
| PubMed ID: 3865225 |
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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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