Abstract
Twenty-five Turkish infants with Tay-Sachs disease (TSD) have been diagnosed in the past 8 years. All are from consanguineous, nonrelated families. The present study deals with the molecular basis of six Turkish TSD patients from five unrelated families in which the parents were first cousins. The five mutations identified in this study were INS-5 G→A, R393X, R137X, 12-bp deletion in exon 10, and G454D. The first three were reported in earlier studies, two in Turkish TSD infants and one in a French TSD infant.
| Original language | English |
|---|---|
| Pages (from-to) | 250-253 |
| Number of pages | 4 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 65 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Nov 1998 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- GM2 gangliosidosis
- HEXA gene
- Tay-Sachs disease (TSD)
- Turkish population
- β-hexosaminidase A
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