cytosine 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 |
---|---|
Goto, M | 1 |
Sawamura, D | 1 |
Nishie, W | 1 |
Sakai, K | 1 |
McMillan, JR | 1 |
Akiyama, M | 1 |
Shimizu, H | 1 |
Gardella, R | 1 |
Barlati, S | 1 |
Zoppi, N | 1 |
Tadini, G | 1 |
Colombi, M | 1 |
2 other studies available for cytosine and Cockayne-Touraine Disease
Article | Year |
---|---|
Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.
Topics: Animals; Cell Line; Codon, Nonsense; Collagen Type VII; Cytosine; Epidermolysis Bullosa Dystrophica; | 2006 |
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 |