Article
Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
European journal of human genetics : EJHG - 1 Jan 2000
Nuytinck L, Wettinck K, Freund M, Van Maldergem L, Fabry G, De Paepe A
Abstract excerpt
Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of s...
Topics
- Adult
- Collagen
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Fetal Diseases
- Fibroblasts
- Glycine
- Humans
- Infant, Newborn
- Male
- Osteogenesis Imperfecta
- Peptide Mapping
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Pregnancy
- Prenatal Diagnosis