Publication

Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS, Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem275:1300-6 2000
PubMed ID: 10625677

Records Return:  (6) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00130Male25 YR700probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM14606Female26 YR1796probandHERMANSKY-PUDLAK SYNDROME; HPS
GM14609Female26 YR1796probandHERMANSKY-PUDLAK SYNDROME; HPS
GM00037Female18 YR162probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00131Female23 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM00316Male12 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE