thymine has been researched along with Tay-Sachs Disease in 1 studies
Tay-Sachs Disease: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Brown, DH | 1 |
| Triggs-Raine, BL | 1 |
| McGinniss, MJ | 1 |
| Kaback, MM | 1 |
1 other study available for thymine and Tay-Sachs Disease
| Article | Year |
|---|---|
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Topics: Alternative Splicing; Base Sequence; beta-N-Acetylhexosaminidases; Diagnostic Tests, Routine; DNA; E | 1995 |