Publication
| Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K, Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat22(4):313-25 2003 |
| PubMed ID: 12955717 |
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| Records Return:
(12)
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| Catalog ID | Gender | Family | Relationship | Description | Collection_Type_id |
| GM17920 | Female | 2250 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17912 | Female | 2248 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17911 | Male | 2247 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17919 | Female | 2246 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17918 | Female | 2245 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17923 | Male | 2241 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17914 | Female | 2240 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17910 | Male | 2239 | proband | NIEMANN-PICK DISEASE, TYPE C2 | GM |
| GM17921 | Male | 2238 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17926 | Female | 2237 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17913 | Male | 2235 | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
| GM17924 | Female | | proband | NIEMANN-PICK DISEASE, TYPE C1; NPC1 | GM |
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