Publication
| Tanaka A, Punnett HH, Suzuki K, A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). Am J Hum Genet47:568-74 1990 |
| PubMed ID: 2144098 |
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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM00527 | Male | 1 YR | 1300 | proband | TAY-SACHS DISEASE; TSD | GM |
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