Dominant-negative Effects of COL7A1 Mutations Can be Rescued by Controlled Overexpression of Normal Collagen VII

Dominant-negative interference by glycine substitution mutations in the COL7A1 gene causes dominant dystrophic epidermolysis bullosa (DDEB), a skin fragility disorder with mechanically induced blistering. Although qualitative and quantitative alterations of the COL7A1 gene product, collagen VII, und...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Fritsch, Anja, Spassov, Sashko, Elfert, Susanne, Schlosser, Andreas, Gache, Yannick, Meneguzzi, Guerrino, Bruckner-Tuderman, Leena
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2009
Gaiak:
Glycobiology and Extracellular Matrices
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781580/
https://ncbi.nlm.nih.gov/pubmed/19726672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.045294
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