{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:26:46Z","timestamp":1791026806818,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1016\/j.jdermsci.2007.02.006","type":"journal-article","created":{"date-parts":[[2007,4,11]],"date-time":"2007-04-11T07:13:35Z","timestamp":1176275615000},"page":"169-178","source":"Crossref","is-referenced-by-count":30,"title":["Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants"],"prefix":"10.1016","volume":"46","author":[{"given":"Ningning","family":"Dang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Klingberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Marr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9d\u00e9e F.","family":"Murrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib1","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1067\/mjd.2000.106369","article-title":"Revised classification system for inherited epidermolysis bullosa: report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa","volume":"42","author":"Fine","year":"2000","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"10.1016\/j.jdermsci.2007.02.006_bib2","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/1523-1747.ep12471830","article-title":"Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression","volume":"100","author":"McGrath","year":"1993","journal-title":"J Invest Dermatol"},{"issue":"5","key":"10.1016\/j.jdermsci.2007.02.006_bib3","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1111\/j.1365-2133.1994.tb13109.x","article-title":"Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features","volume":"130","author":"McGrath","year":"1994","journal-title":"Br J Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib4","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1046\/j.1523-1747.1998.00326.x","article-title":"Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa","volume":"111","author":"Kon","year":"1998","journal-title":"J Invest Dermatol"},{"issue":"9","key":"10.1016\/j.jdermsci.2007.02.006_bib5","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/hmg\/4.9.1579","article-title":"Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen","volume":"4","author":"Christiano","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib6","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1046\/j.1523-1747.1999.00614.x","article-title":"Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa","volume":"112","author":"Mellerio","year":"1999","journal-title":"J Invest Dermatol"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib7","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1046\/j.1523-1747.2002.19606.x","article-title":"Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa","volume":"119","author":"Gardella","year":"2002","journal-title":"J Invest Dermatol"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib8","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1046\/j.1523-1747.1998.00394.x","article-title":"Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations","volume":"111","author":"Hammami-Hauasli","year":"1998","journal-title":"J Invest Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib9","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/1523-1747.ep12336276","article-title":"Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein","volume":"109","author":"Christiano","year":"1997","journal-title":"J Invest Dermatol"},{"issue":"4","key":"10.1016\/j.jdermsci.2007.02.006_bib10","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1046\/j.1523-1747.1999.00732.x","article-title":"Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis","volume":"113","author":"Whittock","year":"1999","journal-title":"J Invest Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib11","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1086\/302029","article-title":"Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa","volume":"63","author":"Sakuntabhai","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib12","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1016\/j.bbrc.2005.10.097","article-title":"HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa","volume":"338","author":"Posteraro","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"issue":"12","key":"10.1016\/j.jdermsci.2007.02.006_bib13","first-page":"1483","article-title":"Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene","volume":"78","author":"Cserhalmi-Friedman","year":"1998","journal-title":"Lab Invest"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib14","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1111\/1523-1747.ep12341013","article-title":"Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene","volume":"109","author":"Christiano","year":"1997","journal-title":"J Invest Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib15","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1080\/00015550260132479","article-title":"A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa","volume":"82","author":"Jiang","year":"2002","journal-title":"Acta Derm Venereol"},{"issue":"1","key":"10.1016\/j.jdermsci.2007.02.006_bib16","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S0945-053X(98)00005-5","article-title":"Mutation analysis and molecular genetics of epidermolysis bullosa","volume":"18","author":"Pulkkinen","year":"1999","journal-title":"Matrix Biol"},{"issue":"1","key":"10.1016\/j.jdermsci.2007.02.006_bib17","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","article-title":"Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa","volume":"21","author":"Christiano","year":"1994","journal-title":"Genomics"},{"issue":"2","key":"10.1016\/j.jdermsci.2007.02.006_bib18","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/1523-1747.ep12329570","article-title":"Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa","volume":"107","author":"Dunnill","year":"1996","journal-title":"J Invest Dermatol"},{"issue":"2","key":"10.1016\/j.jdermsci.2007.02.006_bib19","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1083\/jcb.131.2.551","article-title":"Immunohistochemical mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain","volume":"131","author":"Bruckner-Tuderman","year":"1995","journal-title":"J Cell Biol"},{"issue":"4","key":"10.1016\/j.jdermsci.2007.02.006_bib20","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1111\/1523-1747.ep12345814","article-title":"Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa","volume":"106","author":"Christiano","year":"1996","journal-title":"J Invest Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib21","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1086\/515495","article-title":"Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation","volume":"61","author":"Hovnanian","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.jdermsci.2007.02.006_bib22","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/01.dad.0000211510.44865.6d","article-title":"A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa","volume":"28","author":"Yiasemides","year":"2006","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.jdermsci.2007.02.006_bib23","doi-asserted-by":"crossref","unstructured":"Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006.","DOI":"10.1136\/jmg.2005.039685"},{"issue":"5","key":"10.1016\/j.jdermsci.2007.02.006_bib24","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1038\/sj.jid.5700219","article-title":"Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa","volume":"126","author":"Kern","year":"2006","journal-title":"J Invest Dermatol"},{"issue":"7","key":"10.1016\/j.jdermsci.2007.02.006_bib25","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1093\/hmg\/6.7.1125","article-title":"Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene","volume":"6","author":"Winberg","year":"1997","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.jdermsci.2007.02.006_bib26","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1046\/j.1365-2230.2001.00769.x","article-title":"Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1","volume":"26","author":"Wessagowit","year":"2001","journal-title":"Clin Exp Dermatol"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib27","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1046\/j.1523-1747.1998.00422.x","article-title":"Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling","volume":"111","author":"Rouan","year":"1998","journal-title":"J Invest Dermatol"},{"issue":"4","key":"10.1016\/j.jdermsci.2007.02.006_bib28","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1046\/j.1365-2133.2003.05315.x","article-title":"Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa","volume":"149","author":"Mallipeddi","year":"2003","journal-title":"Br J Dermatol"},{"issue":"4","key":"10.1016\/j.jdermsci.2007.02.006_bib29","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1046\/j.1365-2133.1998.02496.x","article-title":"A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa","volume":"139","author":"Mellerio","year":"1998","journal-title":"Br J Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib30","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1111\/1523-1747.ep12666033","article-title":"A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa","volume":"104","author":"Christiano","year":"1995","journal-title":"J Invest Dermatol"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib31","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/j.1600-0625.1997.tb00177.x","article-title":"Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary","volume":"6","author":"Cserhalmi-Friedman","year":"1997","journal-title":"Exp Dermatol"},{"issue":"6","key":"10.1016\/j.jdermsci.2007.02.006_bib32","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1111\/1523-1747.ep12349019","article-title":"Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization","volume":"106","author":"Kivirikko","year":"1996","journal-title":"J Invest Dermatol"},{"issue":"3","key":"10.1016\/j.jdermsci.2007.02.006_bib33","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1093\/hmg\/2.3.273","article-title":"The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron\/exon organization of the corresponding region of the COL7A1 gene","volume":"2","author":"Greenspan","year":"1993","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.jdermsci.2007.02.006_bib34","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1046\/j.1523-1747.2003.12325.x","article-title":"Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation","volume":"121","author":"Bodemer","year":"2003","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2007.02.006_bib35","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1042\/bj2610253","article-title":"Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of exl(I)-chain glycine-to-arginine substitutions","volume":"261","author":"Baker","year":"1989","journal-title":"Biochem. J."},{"issue":"30","key":"10.1016\/j.jdermsci.2007.02.006_bib36","doi-asserted-by":"crossref","first-page":"19228","DOI":"10.1074\/jbc.273.30.19228","article-title":"Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering","volume":"273","author":"Hammami-Hauasli","year":"1998","journal-title":"J Biol Chem"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181107000801?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181107000801?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T04:55:03Z","timestamp":1546923303000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181107000801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S0923181107000801"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2007.02.006","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]}}}