Search Results - "MECKLENBECK, S"
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High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa
Published in British journal of dermatology (1951) (01-05-2005)“…Summary Background Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa…”
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Stable integration of large (> 100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system
Published in Gene therapy (01-09-2000)“…Transfer of large DNA constructs in gene therapy studies is being recognised for its importance in maintaining the natural genomic environment of the gene of…”
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Clustering of COL7A1 Mutations in Exon 73: Implications for Mutation Analysis in Dystrophic Epidermolysis Bullosa
Published in Journal of investigative dermatology (01-03-1999)Get full text
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Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets
Published in British journal of dermatology (1951) (01-01-2001)“…We report monozygous triplets affected with dystrophic epidermolysis bullosa (DEB). The female triplets were delivered by Caesarean section and skin fragility…”
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A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line
Published in Human gene therapy (01-09-2002)“…Dystrophic epidermolysis bullosa (DEB) comprises a family of inherited blistering skin disorders for which no corrective therapy currently exists. In the most…”
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ORIGINAL ARTICLE: High frequency of the 425A arrow right G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa
Published in British journal of dermatology (1951) (01-05-2005)“…Background: Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). These…”
Get full text
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