Article
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
Journal of medical genetics - 1 Feb 1992
Cole W G, Patterson E, Bonadio J, Campbell P E, Fortune D W
Abstract excerpt
The features of three babies with perinatal lethal osteogenesis imperfecta (OI II) resulting from substitutions of glycine by valine in the triple helical domain of the alpha 1(I) chain of type I collagen were studied. The babies were heterozygous for this substitution at residue 1006 in case 1 (...
Topics
- Adult
- Amino Acid Sequence
- Female
- Fetus
- Glycine
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Osteogenesis Imperfecta
- Phenotype
- Procollagen
- Radiography
- Valine