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  • Title: Studies on collagen metabolism in the Marfan syndrome.
    Author: Müller KP, Nerlich AG, Kunze D, Müller PK.
    Journal: Eur J Clin Invest; 1987 Jun; 17(3):218-25. PubMed ID: 3113966.
    Abstract:
    The pattern of collagen metabolism was studied in nine fibroblast cultures from Marfan patients. The cellular synthesis of collagen and non-collagenous proteins was significantly increased, whereas secretion and degradation remained unchanged. Other steps of post-translational processing such as hydroxylation of prolyl or lysyl residues, affecting triple helix stability, were found to be normal. Furthermore, peptide mapping of isolated a 1(I), a 2(I) and a 1(III) gave no evidence for structural defects. Hence, our study would support the notion that defects other than those affecting collagen type I or III metabolism must represent the molecular basis of the Marfan syndrome.
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