{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T18:31:43Z","timestamp":1794335503002,"version":"4.9.0"},"reference-count":72,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2008,6,3]],"date-time":"2008-06-03T00:00:00Z","timestamp":1212451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:p>\n                    <jats:bold>Abstract:\u2002<\/jats:bold>\n                    Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (\n                    <jats:italic>COL7A1<\/jats:italic>\n                    ). To date, 324 pathogenic mutations have been detected within\n                    <jats:italic>COL7A1<\/jats:italic>\n                    in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of\n                    <jats:italic>COL7A1<\/jats:italic>\n                    although other missense mutations, deletions or splice\u2010site mutations may underlie some cases. In recessive dystrophic epidermolysis bullosa, the mutations include nonsense, splice site, deletions or insertions, \u2018silent\u2019 glycine substitutions within the triple helix and non\u2010glycine missense mutations within the triple helix or non\u2010collagenous NC\u20102 domain. The nature of mutations in\n                    <jats:italic>COL7A1<\/jats:italic>\n                    and their positions correlate reasonably logically with the severity of the resulting phenotypes.\n                  <\/jats:p>","DOI":"10.1111\/j.1600-0625.2008.00723.x","type":"journal-article","created":{"date-parts":[[2008,6,3]],"date-time":"2008-06-03T05:54:36Z","timestamp":1212472476000},"page":"553-568","source":"Crossref","is-referenced-by-count":184,"title":["Mutation analysis and characterization of\n                    <i>COL7A1<\/i>\n                    mutations in dystrophic epidermolysis bullosa"],"prefix":"10.1111","volume":"17","author":[{"given":"Ningning","family":"Dang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9d\u00e9e 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