Publication
| Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS, Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem275:1300-6 2000 |
| PubMed ID: 10625677 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM00130 | Male | 25 YR | 700 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM14606 | Female | 26 YR | 1796 | proband | HERMANSKY-PUDLAK SYNDROME; HPS | GM |
| GM14609 | Female | 26 YR | 1796 | proband | HERMANSKY-PUDLAK SYNDROME; HPS | GM |
| GM00037 | Female | 18 YR | 162 | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
| GM00131 | Female | 23 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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