Novel HEXA Mutation and Its Impact on Hexosaminidase-A Activity in a Heterozygous Carrier: Insight from In-vitro and In-silico study
Tay-Sachs disease (TSD) is a severe autosomal recessive neurodegenerative disorder resulting from mutations in the HEXA gene, leading to β-hexosaminidase A (Hex-A) deficiency. Accurate carrier identification through genetic screening is crucial for reproductive planning. This study aimed to characte...
Furkejuvvon:
| Váldodahkkit: | , |
|---|---|
| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
University of Sistan and Baluchestan
2025-06-01
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| Ráidu: | Journal of Epigenetics |
| Fáttát: | |
| Liŋkkat: | https://jep.usb.ac.ir/article_9234_98e1bdd179905f0ac3cd2aa270f2bc1b.pdf |
| Fáddágilkorat: |
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