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Genetic Disorders of Collagen Metabolism

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Advances in Human Genetics

Abstract

The first of the true genetic disorders of collagen metabolism, lysyl hydroxylase deficiency, was described in 1972 (Pinnell et al., 1972), and since that time there has been continued expansion of the biochemical understanding of inherited connective tissue disorders that involve collagen. In that period abnormalities in collagen structure, biosynthesis, post-translational modification, and degradation have been identified in the Ehlers-Danlos syndrome, the Marfan syndrome, osteogenesis imperfecta, cutis laxa, a small number of chondrodystrophies, and forms of epidermolysis bullosa.

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Authors and Affiliations

  1. Division of Medical Genetics, Departments of Pediatrics and Medicine, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance, California, USA

    David W. Hollister

  2. Departments of Pathology and Medicine, University of Washington, Seattle, Washington, USA

    Peter H. Byers

  3. Departments of Biological Structure and Medicine, University of Washington, Seattle, Washington, USA

    Karen A. Holbrook

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  1. David W. Hollister
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  2. Peter H. Byers
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  3. Karen A. Holbrook
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Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1982 Plenum Press, New York

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Hollister, D.W., Byers, P.H., Holbrook, K.A. (1982). Genetic Disorders of Collagen Metabolism. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8315-8_1

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