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

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03123Female9 YR451probandNIEMANN-PICK DISEASE, TYPE C1; NPC1
GM00110Male9 YR probandNIEMANN-PICK DISEASE, TYPE C1; NPC1