Myerowitz R, Costigan FC, The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem263:18587-9 1988
PubMed ID: 2848800

Records Return:  (4) Show
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00515Female1 YR58probandTAY-SACHS DISEASE; TSD
GM03052Female24 YR437motherTAY-SACHS DISEASE; TSD
GM02968Female1 YR437probandTAY-SACHS DISEASE; TSD
GM03051Male23 YR437fatherTAY-SACHS DISEASE; TSD