{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T18:00:13Z","timestamp":1776535213336,"version":"3.51.2"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T00:00:00Z","timestamp":1077840000000},"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":[[2004,3]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Mutations in genes keratin 5 (<jats:italic>KRT5<\/jats:italic>) and 14 (<jats:italic>KRT14<\/jats:italic>) encoding the basal type keratin intermediate filaments have been identified in epidermolysis bullosa simplex (EBS) families and are likely to cause skin fragility. Three novel keratin 14 mutations in cases from the Hungarian Epidermolysis Bullosa Centre are reported. In a 7\u2010year\u2010old boy with Dowling\u2010Meara type EBS (DM\u2010EBS), who had severe skin symptoms with extended herpetiform blisters, a novel amino acid substitution N123K in keratin 14 had been detected. A 26\u2010year\u2010old woman with mild DM\u2010EBS with prominent palmoplantar hyperkeratosis and without active blister formation had a novel R125G mutation in keratin 14. In a 6\u2010year\u2010old girl, with Weber\u2010Cockayne type EBS (WC\u2010EBS) with palmoplantar blisters and moderate mental retardation, a novel V133L substitution was detected. Her pedigree showed autosomal dominant mode of inheritance; in the two other families, only the index patients were affected. The N123K and R125G mutations causing DM\u2010EBS phenotypes are located within the helix initiation motif of the rod domain, whereas the very close V133L mutation underlying the WC\u2010EBS phenotype is outside of this region. These novel amino acid substitutions provide further information for genotype\u2013phenotype correlation in <jats:italic>KRT14<\/jats:italic> mutations, and demonstrate the first molecular genetic data in EBS patients from Hungary.<\/jats:p>","DOI":"10.1111\/j.0906-6705.2004.0120.x","type":"journal-article","created":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T08:31:48Z","timestamp":1077870708000},"page":"185-191","source":"Crossref","is-referenced-by-count":12,"title":["Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa 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