{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:03Z","timestamp":1760764203793,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,8]]},"abstract":"<jats:p>Epidermolysis bullosa simplex (EBS) is an autosomal dominant disorder characterised by intraepidermal blistering of the skin. Two families with Weber-Cockayne EBS have been analysed for linkage to keratin gene loci. In the first family, linkage was found to chromosome 17 markers flanking the keratin 14 gene (D17S74: Zmax = +2.45, theta = 0.10; COL1A1: Zmax = +0.97, theta = 0.00) and markers near the keratin 5 gene on chromosome 12 were excluded (D12S17: Z less than -2.0, theta = 0.08; COL2A1: Z less than -2.0, theta = 0.13). In contrast, the second family showed linkage to the region containing the keratin 5 gene (D12S17: Zmax = +1.37, theta = 0.08; COL2A1: Zmax = +0.33, theta = 0.15) and was not linked to the keratin 14 gene (D17S74: Z less than -2.0, theta = 0.14). The Weber-Cockayne form of EBS is genetically heterogeneous with linkage to different keratin gene loci.<\/jats:p>","DOI":"10.1136\/jmg.29.8.568","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"568-570","source":"Crossref","is-referenced-by-count":11,"title":["Linkage of epidermolysis bullosa simplex to keratin gene loci."],"prefix":"10.1136","volume":"29","author":[{"given":"K E","family":"McKenna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A E","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E A","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N C","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,8,1]]},"reference":[{"issue":"95","key":"ref_1","first-page":"74","article-title":"Sixteen types of epidermolysis bullosa: on the clinical discrimination, therapy and prenatal diagnosis","volume":"1981","author":"T, Jr, Gedde-Dahl","unstructured":"Gedde-Dahl T Jr. Sixteen types of epidermolysis bullosa: on the clinical discrimination, therapy and prenatal diagnosis. 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