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Advances in Human Genetics pp 105–132Cite as

Mutations in Type I Procollagen Genes That Cause Osteogenesis Imperfecta

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Part of the book series: Advances in Human Genetics ((AHUG,volume 19))

Abstract

Recent data from several laboratories have demonstrated that most forms of osteogenesis imperfecta (OI) are caused by mutations in one of the two structural genes for type I procollagen. Few, if any, are in the many other genes expressed in bone. This surprising conclusion has several implications for other genetic diseases that involve connective tissues as well as several more common diseases.

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Authors and Affiliations

  1. Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, 19107, USA

    Darwin J. Prockop, Clinton T. Baldwin & Constantinos D. Constantinou

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  1. Darwin J. Prockop
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  2. Clinton T. Baldwin
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  3. Constantinos D. Constantinou
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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 of 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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Prockop, D.J., Baldwin, C.T., Constantinou, C.D. (1990). Mutations in Type I Procollagen Genes That Cause Osteogenesis Imperfecta. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 19. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9065-8_2

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