Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

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Abstract
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Dang, Ningning, and Dédée F. Murrell. “Mutation Analysis and Characterization of COL7A1 Mutations in Dystrophic Epidermolysis Bullosa”. Experimental Dermatology, vol. 17, no. 7, 2008, pp. 553-68, https://doi.org/10.1111/j.1600-0625.2008.00723.x.
Dang, N., & Murrell, D. F. (2008). Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Experimental Dermatology, 17(7), 553-568. https://doi.org/10.1111/j.1600-0625.2008.00723.x
Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Experimental Dermatology. 2008;17(7):553-68.
Refrences
Title Journal Journal Categories Citations Publication Date
Anchoring fibrils contain the carboxyl‐terminal globular domain of type VII procollagen, but lack the amino‐terminal globular domain Journal of Biological Chemistry
  • Science: Chemistry: Organic chemistry: Biochemistry
1987
A single intradermal injection of allogeneic fibroblasts can increase type VII collagen expression in recessive dystrophic epidermolysis bullosa for at last 3 months 2007
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene 1998
Glycine substitutions in the triple‐helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance 1996
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa 1991
Citations
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Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa Journal of Applied Genetics
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A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant Anais Brasileiros de Dermatologia
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A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation The Journal of Dermatology
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Self‐improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family

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Deficient skin proteins rescue of expression in patients with epidermolysis bullosa: efficacy of gentamicin

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Medicine: Medicine (General)86
Medicine: Dermatology55
Science: Biology (General): Genetics24
Medicine20
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The category Medicine: Medicine (General) 86 is the most commonly referenced area in studies that cite this article. The first research to cite this article was titled Update on diagnosis and therapy of inherited epidermolysis bullosa and was published in 2008. The most recent citation comes from a 2024 study titled Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa. This article reached its peak citation in 2010, with 15 citations. It has been cited in 92 different journals, 21% of which are open access. Among related journals, the Journal of Dermatological Science cited this research the most, with 8 citations. The chart below illustrates the annual citation trends for this article.
Citations used this article by year