Abstract
MARFAN syndrome, which is inherited as an autosomal dominant trait with variable expressivity, results from a diffuse or generalized disorder of connective tissues. It is not known, however, whether the primary defect resides in elastic fibres, collagen or some other component of connective tissue1. When patients die of the disorder it is usually because of abnormality of the connective tissues of the large vessels leaving the heart2. We wish to present evidence that collagen produced by fibroblasts cultured from individuals with Marfan syndrome is more soluble than normal in solvents used to extract it. Such abnormality was first proposed by Macek et al.3.
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References
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PRIEST, R., MOINUDDIN, J. & PRIEST, J. Collagen of Marfan Syndrome is Abnormally Soluble. Nature 245, 264–266 (1973). https://doi.org/10.1038/245264a0
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DOI: https://doi.org/10.1038/245264a0
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