thymine has been researched along with Cockayne-Touraine Disease in 2 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Hereditary dystrophic epidermolysis bullosa (DEB) refers to a group of clinically heterogeneous skin blistering diseases due to mutations in the collagen type VII gene (COL7A1)." | 1.31 | A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. ( Barlati, S; Colombi, M; Gardella, R; Tadini, G; Zoppi, N, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Hamada, T | 1 |
| Fukuda, S | 1 |
| Ishii, N | 1 |
| Sakaguchi, S | 1 |
| Ishikawa, T | 1 |
| Abe, T | 1 |
| Yasumoto, S | 1 |
| Hashimoto, T | 1 |
| Nakano, H | 1 |
| Sawamura, D | 1 |
| Gardella, R | 1 |
| Barlati, S | 1 |
| Zoppi, N | 1 |
| Tadini, G | 1 |
| Colombi, M | 1 |
2 other studies available for thymine and Cockayne-Touraine Disease
| Article | Year |
|---|---|
Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
Topics: Adult; Alternative Splicing; Codon, Nonsense; Collagen Type VII; DNA Mutational Analysis; Epidermoly | 2008 |
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
Topics: Cells, Cultured; Child; Collagen; Cytosine; Epidermolysis Bullosa Dystrophica; Genes, Recessive; Het | 2000 |