{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:28:30Z","timestamp":1764102510168},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2006,8,1]],"date-time":"2006-08-01T00:00:00Z","timestamp":1154390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>An autosomal dystrophic epidermolysis bullosa (DDEB) is a hereditary mechanobullous disease characterized by blistering of the skin and the mucous membrane. DDEB is caused by a heterozygous mutation in the <jats:italic>COL7A1<\/jats:italic> gene encoding type VII collagen, the major component of anchoring fibrils, and phenotypically classified into several types. We experienced two boys with DDEB and examined the mutation analyses of the <jats:italic>COL7A1<\/jats:italic> genes of the two patients and their fathers to clarify the relationship between the genotypes and phenotypes, that is, the mutation sites of <jats:italic>COL7A1<\/jats:italic> gene and the clinical types of DDEB. The case 1 and 2 patients and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of <jats:italic>COL7A1<\/jats:italic>, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively. G2037R found in the case 1 patient was a novel mutation. There was no clear relationship recognized between the two mutation sites in the <jats:italic>COL7A1<\/jats:italic> gene and the clinical variations.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2006.00130.x","type":"journal-article","created":{"date-parts":[[2010,9,20]],"date-time":"2010-09-20T11:19:06Z","timestamp":1284981546000},"page":"550-556","source":"Crossref","is-referenced-by-count":2,"title":["Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene 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