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Phenotypic expression was different for the affected mother and son, in the presence of the same biochemical results.<\/jats:p><jats:p>Dermal fibroblast cultures synthesized normal and mutant type I collagen \u03b1 chains. Collagen heterotrimers containing abnormal chains were overmodified along the entire triple helical domain and showed an unusually low denaturation temperature, so far found only in lethal cases. The mild phenotype in the family is probably due to the fact that abnormal type I collagen molecules are more likely to be degraded than utilized in the extracellular matrix.<\/jats:p>","DOI":"10.1007\/bf01800591","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:15:11Z","timestamp":1119374111000},"page":"189-201","source":"Crossref","is-referenced-by-count":5,"title":["Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta"],"prefix":"10.1002","volume":"14","author":[{"given":"R.","family":"Tenni","sequence":"first","affiliation":[{"name":"Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica University of Pavia  via Taramelli 3b Pavia 27100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Biglino","sequence":"additional","affiliation":[{"name":"II Divisione Pediatria Istituto \u2018G. 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