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She was found to have a single\u2010base mutation that substituted glutamic acid for glycine at amino acid position 1021 in the triple\u2010helical domain of type III Procollagen. It is the most carboxyterminal single\u2010base mutation characterized to date in the COL3A1 gene. Analysis of medium and cell layer proteins from proposita's cultured skin fibroblasts showed that the mutant protein was poorly secreted, migrated more slowly on a polyacrylamide gel, and was partially unstable at +25\u00b0C to brief digestion with trypsin. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460308","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:09Z","timestamp":1118508969000},"page":"278-283","source":"Crossref","is-referenced-by-count":24,"title":["Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers\u2013Danlos syndrome type IV"],"prefix":"10.1002","volume":"46","author":[{"given":"Paolo","family":"Narcisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuli","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Tromp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J","family":"Earley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan J.","family":"Richards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. 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