Predicting the Clinical Lethality of Osteogenesis Imperfecta from Collagen Glycine Mutations
Author:
Affiliation:
1. Genetics Department, School of Medicine, Stanford University, Stanford, California 94305, and Department of Biochemistry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, New Jersey 08854
Publisher
American Chemical Society (ACS)
Subject
Biochemistry
Link
https://pubs.acs.org/doi/pdf/10.1021/bi800026k
Reference40 articles.
1. Osteogenesis Imperfecta
2. Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis
3. Inherited disorders of collagen gene structure and expression
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