Publication

Boles DJ, Proia RL, The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation. Am J Hum Genet56:716-24 1995
PubMed ID: 7887427

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03052Female24 YR437motherTAY-SACHS DISEASE; TSD
GM11853Male1 YR1448probandTAY-SACHS DISEASE; TSD
GM03299Female8 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE