Article
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
Human genetics - 1 May 1991
Pruchno C J, Cohn D H, Wallis G A, Willing M C, Starman B J, Zhang X M, Byers P H
Abstract excerpt
Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member(s) of the family. We have determined that two individuals with a progressive deforming variety of OI, OI type III, have the same new dominant mutation [alpha...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Collagen
- DNA
- Dinucleoside Phosphates
- Female
- Genes, Dominant
- Genes, Lethal
- Heterozygote
- Humans
- Infant, Newborn