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

Records Return:  (12) Show
 
Catalog IDGenderFamilyRelationshipDescription
GM17920Female2250probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17912Female2248probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17911Male2247probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17919Female2246probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17918Female2245probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17923Male2241probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17914Female2240probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17910Male2239probandNIEMANN-PICK DISEASE, TYPE C2
GM17921Male2238probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17926Female2237probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17913Male2235probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM17924Female probandNIEMANN-PICK DISEASE, TYPE C1; NPC1