{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T21:39:15Z","timestamp":1766266755955},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,20]],"date-time":"2006-01-20T00:00:00Z","timestamp":1137715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>We describe two cases of a 3\u2010year\u2010old Japanese boy and his 1\u2010year\u2010old sister presenting recessive dystrophic epidermolysis bullosa; a relatively mild phenotype. Blistering and scarring were limited to the acral region, and some fingernails and toenails were lost. PCR\u2010RFLP and DNA sequencing analyses revealed compound heterozygotes for a splice\u2010site mutation (6573 +1GtoC) and a nonsense mutation (E2857X) in the type VII collagen gene (COL7A1). Both mutations caused a premature termination codon (PTC). The mutation E2857X was located behind the candidate cleavage site within the NC\u20102 domain required for the assembly of anchoring fibrils. This PTC position may explain their mild phenotype.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2006.02774.x","type":"journal-article","created":{"date-parts":[[2006,1,20]],"date-time":"2006-01-20T15:55:37Z","timestamp":1137772537000},"page":"302-305","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype"],"prefix":"10.1111","volume":"45","author":[{"given":"Y.","family":"Shibusawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Negishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1067\/mjd.2000.106369","article-title":"Revised classification system for inherited epidermolysis bullosa. 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