Osteogenesis imperfecta: questions and answers
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology and Child Health
Reference42 articles.
1. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta;Pace;J Biol Chem,2008
2. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing;Körkkö;Proc Natl Acad Sci U S A,1998
3. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships;Bodian;Hum Mol Genet,2009
4. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006
5. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies;Pepin;Prenat Diagn,1997
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