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A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
- Correspondence to: Dr P H Byers, Department of Pathology, University of Washington, Box 357470, Seattle, WA 98195, USA; pbyers{at}u.washington.edu
Citation
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
Publication history
- Accepted October 26, 2001
- Revised October 24, 2001
- First published January 1, 2002.
Online issue publication
April 27, 2016
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Copyright 2002 Journal of Medical Genetics