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The concepts of such \u2018conformational disease\u2019 are illustrated by reference to cystic fibrosis, phenylketonuria and short\u2010chain acyl\u2010CoA dehydrogenase deficiency. Other cellular components such as chaperones and proteases, as well as environmental factors, may combine to modulate the phenotype of such disorders and this may open up new therapeutic approaches.<\/jats:p>","DOI":"10.1023\/a:1005663728291","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"441-447","source":"Crossref","is-referenced-by-count":51,"title":["Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders"],"prefix":"10.1002","volume":"23","author":[{"given":"N.","family":"Gregersen","sequence":"first","affiliation":[{"name":"Research Unit for Molecular Medicine Aarhus University Hospital  Skejby Sygehus Aarhus N 8200 Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Bross","sequence":"additional","affiliation":[{"name":"Research Unit for Molecular Medicine Aarhus University Hospital  Skejby Sygehus Aarhus N 8200 Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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