Publication
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 |
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Records Return:
(4)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM00515 | Female | 1 YR | 58 | proband | TAY-SACHS DISEASE; TSD | GM |
GM03052 | Female | 24 YR | 437 | mother | TAY-SACHS DISEASE; TSD | GM |
GM02968 | Female | 1 YR | 437 | proband | TAY-SACHS DISEASE; TSD | GM |
GM03051 | Male | 23 YR | 437 | father | TAY-SACHS DISEASE; TSD | GM |
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