Page last updated: 2024-10-17

cytosine and Cockayne-Touraine Disease

cytosine has been researched along with Cockayne-Touraine Disease in 2 studies

Research Excerpts

ExcerptRelevanceReference
"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)."1.31A -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)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Goto, M1
Sawamura, D1
Nishie, W1
Sakai, K1
McMillan, JR1
Akiyama, M1
Shimizu, H1
Gardella, R1
Barlati, S1
Zoppi, N1
Tadini, G1
Colombi, M1

Other Studies

2 other studies available for cytosine and Cockayne-Touraine Disease

ArticleYear
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.
    The Journal of investigative dermatology, 2006, Volume: 126, Issue:12

    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.
    Human mutation, 2000, Volume: 16, Issue:3

    Topics: Cells, Cultured; Child; Collagen; Cytosine; Epidermolysis Bullosa Dystrophica; Genes, Recessive; Het

2000