{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T14:54:53Z","timestamp":1787669693244,"version":"build-2736575974"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":154,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"National Swedish Research Council","award":["521-2013-2612"],"award-info":[{"award-number":["521-2013-2612"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1002\/humu.22764","type":"journal-article","created":{"date-parts":[[2015,2,12]],"date-time":"2015-02-12T14:54:33Z","timestamp":1423752873000},"page":"463-473","source":"Crossref","is-referenced-by-count":51,"title":["Mutations in Collagen, Type XVII, Alpha 1 (\n                    <i>COL17A1<\/i>\n                    ) Cause Epithelial Recurrent Erosion Dystrophy (ERED)"],"prefix":"10.1155","volume":"36","author":[{"given":"Frida","family":"Jonsson","sequence":"first","affiliation":[{"name":"Department of Medical Biosciences\/Medical and Clinical Genetics; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berit","family":"Bystr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences\/Ophthalmology; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice E.","family":"Davidson","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludvig J.","family":"Backman","sequence":"additional","affiliation":[{"name":"Department of Integrative Medical Biology\/Anatomy; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therese G.","family":"Kellgren","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Mathematical Statistics; Ume\u00e5 University; Ume\u00e5 Sweden"},{"name":"Computational Life Science Cluster (CLiC); Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Tuft","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology; London UK"},{"name":"Moorfields Eye Hospital; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timo","family":"Koskela","sequence":"additional","affiliation":[{"name":"Koskelas Eye Clinic; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik","family":"Ryd\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Mathematics and Mathematical Statistics; Ume\u00e5 University; Ume\u00e5 Sweden"},{"name":"Computational Life Science Cluster (CLiC); Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola","family":"Sandgren","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences\/Ophthalmology; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrik","family":"Danielson","sequence":"additional","affiliation":[{"name":"Department of Integrative Medical Biology\/Anatomy; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison J.","family":"Hardcastle","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Golovleva","sequence":"additional","affiliation":[{"name":"Department of Medical Biosciences\/Medical and Clinical Genetics; Ume\u00e5 University; Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,31]]},"reference":[{"key":"10.1002\/humu.22764-BIB0001|humu22764-cit-0001","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1001\/archopht.125.2.177","article-title":"Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?","volume":"125","author":"Aldave","year":"2007","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0002|humu22764-cit-0002","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1006\/geno.1995.9876","article-title":"A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13","volume":"30","author":"Balciuniene","year":"1995","journal-title":"Genomics"},{"key":"10.1002\/humu.22764-BIB0003|humu22764-cit-0003","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1136\/jmg.40.3.220","article-title":"Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay","volume":"40","author":"Baralle","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22764-BIB0004|humu22764-cit-0004","volume-title":"Bioinformatics for geneticists","author":"Betts","year":"2003"},{"key":"10.1002\/humu.22764-BIB0005|humu22764-cit-0005","first-page":"995","article-title":"Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26","volume":"40","author":"Burstedt","year":"1999","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22764-BIB0006|humu22764-cit-0006","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s00418-007-0288-4","article-title":"Laminins in normal, keratoconus, bullous keratopathy and scarred human corneas","volume":"127","author":"Bystrom","year":"2007","journal-title":"Histochem Cell Biol"},{"key":"10.1002\/humu.22764-BIB0007|humu22764-cit-0007","first-page":"2916","article-title":"A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1","volume":"16","author":"Davidson","year":"2010","journal-title":"Mol Vis"},{"key":"10.1002\/humu.22764-BIB0008|humu22764-cit-0008","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22764-BIB0009|humu22764-cit-0009","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1001\/archopht.1987.01060090106038","article-title":"Recessive dystrophic epidermolysis bullosa","volume":"105","author":"Destro","year":"1987","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0010|humu22764-cit-0010","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1001\/archopht.1993.01090080102025","article-title":"Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations","volume":"111","author":"Feder","year":"1993","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0011|humu22764-cit-0011","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.ajo.2004.03.034","article-title":"Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry","volume":"138","author":"Fine","year":"2004","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0012|humu22764-cit-0012","doi-asserted-by":"crossref","first-page":"5026","DOI":"10.1093\/emboj\/cdf532","article-title":"Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs","volume":"21","author":"Franzke","year":"2002","journal-title":"EMBO J"},{"key":"10.1002\/humu.22764-BIB0013|humu22764-cit-0013","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0945-053X(03)00051-9","article-title":"Collagenous transmembrane proteins: collagen XVII as a prototype","volume":"22","author":"Franzke","year":"2003","journal-title":"Matrix Biol"},{"key":"10.1002\/humu.22764-BIB0014|humu22764-cit-0014","first-page":"352","article-title":"Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa","volume":"60","author":"Gatalica","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22764-BIB0015|humu22764-cit-0015","first-page":"212","article-title":"Anchoring fibrils form a complex network in human and rabbit cornea","volume":"28","author":"Gipson","year":"1987","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22764-BIB0016|humu22764-cit-0016","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/1523-1747.ep12616580","article-title":"Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180","volume":"99","author":"Giudice","year":"1992","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22764-BIB0017|humu22764-cit-0017","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1111\/j.1600-0420.2007.01123.x","article-title":"A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance","volume":"86","author":"Hammar","year":"2008","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0018|humu22764-cit-0018","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/j.1755-3768.2008.01308.x","article-title":"Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis","volume":"87","author":"Hammar","year":"2009","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0019|humu22764-cit-0019","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1111\/j.1755-3768.2009.01548.x","article-title":"Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions","volume":"88","author":"Hammar","year":"2010","journal-title":"Acta Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0020|humu22764-cit-0020","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.det.2009.10.007","article-title":"Collagen XVII","volume":"28","author":"Has","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1002\/humu.22764-BIB0021|humu22764-cit-0021","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22764-BIB0022|humu22764-cit-0022","doi-asserted-by":"crossref","first-page":"60","DOI":"10.3109\/02713683.2012.738461","article-title":"Immunolocalization of different collagens in the cornea of human fetal eyes: a developmental approach","volume":"38","author":"Herwig","year":"2013","journal-title":"Curr Eye Res"},{"key":"10.1002\/humu.22764-BIB0023|humu22764-cit-0023","doi-asserted-by":"crossref","first-page":"8604","DOI":"10.1021\/ac202028g","article-title":"High-throughput droplet digital PCR system for absolute quantitation of DNA copy number","volume":"83","author":"Hindson","year":"2011","journal-title":"Anal Chem"},{"key":"10.1002\/humu.22764-BIB0024|humu22764-cit-0024","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/nmeth.2633","article-title":"Absolute quantification by droplet digital PCR versus analog real-time PCR","volume":"10","author":"Hindson","year":"2013","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22764-BIB0025|humu22764-cit-0025","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1038\/jid.2009.22","article-title":"Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications","volume":"129","author":"Huilaja","year":"2009","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22764-BIB0026|humu22764-cit-0026","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/978-1-4614-3209-8_23","article-title":"Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes","volume":"801","author":"Jonsson","year":"2014","journal-title":"Adv Exp Med Biol"},{"key":"10.1002\/humu.22764-BIB0027|humu22764-cit-0027","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1136\/jmg.2010.086751","article-title":"Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa","volume":"48","author":"Kiritsi","year":"2011","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22764-BIB0028|humu22764-cit-0028","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1750-1172-4-7","article-title":"Corneal dystrophies","volume":"4","author":"Klintworth","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.22764-BIB0029|humu22764-cit-0029","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/ejhg.2008.223","article-title":"Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance","volume":"17","author":"Kohn","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22764-BIB0030|humu22764-cit-0030","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1038\/sj.ejhg.5201817","article-title":"Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families","volume":"15","author":"Kohn","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22764-BIB0031|humu22764-cit-0031","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.ajo.2011.12.011","article-title":"Franceschetti hereditary recurrent corneal erosion","volume":"153","author":"Lisch","year":"2012","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0032|humu22764-cit-0032","doi-asserted-by":"crossref","first-page":"e192","DOI":"10.1097\/ICO.0b013e3182a73865","article-title":"Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy","volume":"32","author":"Lisch","year":"2013","journal-title":"Cornea"},{"key":"10.1002\/humu.22764-BIB0033|humu22764-cit-0033","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/humu.21517","article-title":"dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions","volume":"32","author":"Liu","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22764-BIB0034|humu22764-cit-0034","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1111\/1523-1747.ep12345821","article-title":"A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa","volume":"106","author":"McGrath","year":"1996a","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.22764-BIB0035|humu22764-cit-0035","first-page":"1787","article-title":"Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition","volume":"148","author":"McGrath","year":"1996b","journal-title":"Am J Pathol"},{"key":"10.1002\/humu.22764-BIB0036|humu22764-cit-0036","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1097\/ICO.0b013e3181c32efd","article-title":"Individual phenotypic variances in a family with Thiel-Behnke corneal dystrophy","volume":"31","author":"Nakamura","year":"2012","journal-title":"Cornea"},{"key":"10.1002\/humu.22764-BIB0037|humu22764-cit-0037","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1097\/00003226-199109000-00006","article-title":"Electron microscopic findings in corneal epithelial basement membrane degeneration","volume":"10","author":"Payant","year":"1991","journal-title":"Cornea"},{"key":"10.1002\/humu.22764-BIB0038|humu22764-cit-0038","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1111\/j.1365-2230.2005.01937.x","article-title":"Collagen XVII\/BP180: a collagenous transmembrane protein and component of the dermoepidermal anchoring complex","volume":"30","author":"Powell","year":"2005","journal-title":"Clin Exp Dermatol"},{"key":"10.1002\/humu.22764-BIB0039|humu22764-cit-0039","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/sj.eye.6702005","article-title":"Pathogenesis, clinical features and management of recurrent corneal erosions","volume":"20","author":"Ramamurthi","year":"2006","journal-title":"Eye (Lond)"},{"key":"10.1002\/humu.22764-BIB0040|humu22764-cit-0040","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"10.1002\/humu.22764-BIB0041|humu22764-cit-0041","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1076\/ceyr.27.4.223.16595","article-title":"Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25","volume":"27","author":"Sullivan","year":"2003","journal-title":"Curr Eye Res"},{"key":"10.1002\/humu.22764-BIB0042|humu22764-cit-0042","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1016\/S0002-9440(10)63762-5","article-title":"Keratinocytes from patients lacking collagen XVII display a migratory phenotype","volume":"164","author":"Tasanen","year":"2004","journal-title":"Am J Pathol"},{"key":"10.1002\/humu.22764-BIB0043|humu22764-cit-0043","doi-asserted-by":"crossref","first-page":"6390","DOI":"10.1167\/iovs.13-12547","article-title":"The corneal epithelial basement membrane: structure, function, and disease","volume":"54","author":"Torricelli","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.22764-BIB0044|humu22764-cit-0044","first-page":"37","article-title":"BP180 (type XVII collagen) and its role in cutaneous biology and disease","volume":"19","author":"den Bergh","year":"2003","journal-title":"Adv Dermatol"},{"key":"10.1002\/humu.22764-BIB0045|humu22764-cit-0045","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2005.039685","article-title":"Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants","volume":"43","author":"Varki","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22764-BIB0046|humu22764-cit-0046","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1097\/ICO.0b013e31817780fb","article-title":"The IC3D classification of the corneal dystrophies","volume":"27","author":"Weiss","year":"2008","journal-title":"Cornea"},{"key":"10.1002\/humu.22764-BIB0047|humu22764-cit-0047","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1111\/ceo.12149","article-title":"Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review","volume":"42","author":"Vincent","year":"2014","journal-title":"Clin Experiment Ophthalmol"},{"key":"10.1002\/humu.22764-BIB0048|humu22764-cit-0048","first-page":"1700","article-title":"Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy","volume":"15","author":"Vincent","year":"2009","journal-title":"Mol Vis"},{"key":"10.1002\/humu.22764-BIB0049|humu22764-cit-0049","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.det.2009.10.008","article-title":"Non-herlitz junctional epidermolysis bullosa","volume":"28","author":"Yancey","year":"2010","journal-title":"Dermatol Clin"},{"key":"10.1002\/humu.22764-BIB0050|humu22764-cit-0050","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1006\/geno.1997.5028","article-title":"Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24","volume":"46","author":"Yee","year":"1997","journal-title":"Genomics"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22764","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22764","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22764","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:53:15Z","timestamp":1672314795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,31]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22764","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3,31]]}}}