Article
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.
Human genetics - 1 Jul 1992
Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti P F, Cetta G
Abstract excerpt
The molecular defect responsible for a case of mild osteogenesis imperfecta (OI) with repeated femoral fractures was investigated. The proband and his mother, who presented minor OI signs but no bone fractures, were shown to produce normal and abnormal type-I procollagen molecules in their dermal fibroblasts. The molecular defect was localized in about half of the proband's pro alpha 1(I) mRNA molecules by...
Topics
- Base Sequence
- Child
- Chromosome Aberrations
- Codon
- Collagen
- DNA Mutational Analysis
- Female
- Gene Expression
- Genes
- Genes, Dominant
- Genetic Variation