Publication

Levran O, Desnick RJ, Schuchman EH, Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A88:3748-52 1991
PubMed ID: 2023926

Records Return:  (8) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM02895Male2 YR328probandNIEMANN-PICK DISEASE: TYPE UNSPECIFIED
GM00559Female25 YR parentNIEMANN-PICK DISEASE, TYPE A
GM03252Female21 FW probandNIEMANN-PICK DISEASE, TYPE B
GM00406Female2 YR probandNIEMANN-PICK DISEASE, TYPE A
GM00370Female1 YR probandNIEMANN-PICK DISEASE, TYPE A
GM00165Male7 YR probandNIEMANN-PICK DISEASE: TYPE UNSPECIFIED
GM00112Male10 MO probandNIEMANN-PICK DISEASE, TYPE A
GM16193Male  probandNIEMANN-PICK DISEASE, TYPE B