{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:33:33Z","timestamp":1758476013231},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7519,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), K\u00f6bner type, were examined in a single kindred. A positive lod score of 1.2 at \u03b8 = 0.2 was found for <jats:italic>Fy<\/jats:italic>. To test the clinical observation that K\u00f6bner and Weber\u2010Cockayne types may be the same disease determined by different alleles, published lod scores from definite Weber\u2010Cockayne families were added to those from this study. A lod score of 1.8 was found at \u03b8 = 0.2. This value falls to 1.5 at \u03b8 = 0.2 when all families other than Ogna type are included. The K\u00f6bner variant studied is not closely linked to <jats:italic>GPT<\/jats:italic> and is therefore distinct from EBS1 (Ogna type). Linkage analysis is consistent with an hypothesis that K\u00f6bner and Weber\u2010Cockayne types are determined by a single locus; however, further evidence is needed before this locus can be designated <jats:italic>EBS2<\/jats:italic> and assigned to chromosome 1.<\/jats:p>","DOI":"10.1002\/ajmg.1320190320","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:47:06Z","timestamp":1118537226000},"page":"573-577","source":"Crossref","is-referenced-by-count":15,"title":["Genetic linkage analysis of epidermolysis bullosa simplex, K\u00f6bner type"],"prefix":"10.1002","volume":"19","author":[{"given":"J. C.","family":"Mulley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. M.","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. N.","family":"Propert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Turner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. R.","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"314","article-title":"Construction of a genetic linkage map in man using restriction fragment length polymorphisms","volume":"32","author":"Botstein D","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00972.x"},{"key":"e_1_2_1_4_1","volume-title":"Epidermolysis Bullosa. 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