Publication
| Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K, Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet68(6):1361-72 2001 |
| PubMed ID: 11349231 |
|
| Records Return:
(1)
|
|
|
|
|
| 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 |
|
|
|