Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference47 articles.
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1. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novelCOL1A1mutation;American Journal of Medical Genetics Part A;2012-09-17
2. Osteogenesis imperfecta in the archeological record: An example from the Dakhleh Oasis, Egypt;International Journal of Paleopathology;2011-12
3. The severity of osteogenesis imperfecta: A comparison to the relative free energy differences of collagen model peptides;Biopolymers;2010-10-13
4. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships;Human Molecular Genetics;2008-11-07
5. Unexpected ultrastructral changes in bone osteiod collagens in osteogenesis imperfecta;Micron;2005-10
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